SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
Red cell distribution width determination
RDW - Red blood cell distribution width result
Malignant neoplasm of colon and/or rectum
Sleep Initiation and Maintenance Disorders
Platelet mean volume determination (procedure)
Steroid resistant nephrotic syndrome of childhood
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Squamous cell carcinoma of the head and neck
Influenza due to Influenza A virus subtype H1N1
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Low density lipoprotein cholesterol measurement
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
Erythrocytosis due to low atmospheric pressure
Ankle brachial pressure index (observable entity)
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
Secondary malignant neoplasm of lymph node
Autosomal dominant compelling helio ophthalmic outburst syndrome
Conventional (Clear Cell) Renal Cell Carcinoma
Clear-cell metastatic renal cell carcinoma
Oestrogen receptor positive breast cancer
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
Congenital disorder of glycosylation type 1K
Hepatitis B Virus-Related Hepatocellular Carcinoma
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
Vascular Endothelial Growth Factor Measurement
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
Congenital Generalized Lipodystrophy Type 2
Primary differentiated carcinoma of thyroid gland
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Familial thoracic aortic aneurysm and aortic dissection
Systemic onset juvenile chronic arthritis
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Hereditary Motor and Sensory Neuropathy Type I
Epilepsy, Nocturnal Frontal Lobe, Type 4
Muscular dystrophy congenital, merosin negative
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
Autosomal Recessive Polycystic Kidney Disease
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
Cholestasis, progressive familial intrahepatic 3
Polyglandular Type I Autoimmune Syndrome
Optic atrophy, intellectual disability syndrome
Gangliosidosis, Generalized GM1, Type 1 (disorder)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
Histiocytosis with joint contractures and sensorineural deafness
Secondary malignant neoplasm of colon and/or rectum
Indifference to Pain, Congenital, Autosomal Recessive
CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
Monoclonal Gammopathy of Undetermined Significance
Precursor Cell Lymphoblastic Leukemia Lymphoma
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Transposition of the Great Arteries, Dextro-Looped 1
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
Partial or complete agenesis of corpus callosum
MRSA - Methicillin resistant Staphylococcus aureus infection
Human immunodeficiency virus (HIV) II infection category B1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
Dilatation of pulmonary artery, unspecified
Premature birth following premature rupture of fetal membranes
Contractures of the joints of the lower limbs
Abnormality of pelvic girdle bone morphology
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Deficiency of iodide peroxidase (disorder)
Congenital disorder of glycosylation type 1C
Experimental Organism Basal Cell Carcinoma
Secondary malignant neoplasm of pancreas
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
Familial Alzheimer's disease of early onset
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Infiltrating duct carcinoma of female breast
Pathological accumulation of air in tissues
Slow acetylator due to N-acetyltransferase enzyme variant
BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO
Activated Partial Thromboplastin Time measurement
Xeroderma Pigmentosum, Complementation Group D
Treatment related acute myeloid leukaemia
Fast acetylator due to N-acetyltransferase enzyme variant
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Degeneration of lumbar intervertebral disc
ST segment elevation myocardial infarction
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
Aplasia/Hypoplasia of the corpus callosum
Abnormality of the periventricular white matter
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Sex hormone binding globulin measurement
Mesial temporal lobe epilepsy with hippocampal sclerosis
Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of lateral floor of mouth
Liver and Intrahepatic Biliary Tract Carcinoma
Congenital secretory diarrhea, sodium type (disorder)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
Necrotizing enterocolitis in fetus OR newborn
Papillary renal cell carcinoma, sporadic
Megalencephaly cutis marmorata telangiectatica congenita
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Simple syndactyly of toes, first web space
Rudimentary postaxial polydactyly of hands
Esophageal atresia with or without tracheoesophageal fistula
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
IgM monoclonal gammopathy of uncertain significance
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Triglyceride storage disease with ichthyosis
Hypocalciuric hypercalcemia, familial, type 1
Abnormality of the parathyroid physiology
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Growth Hormone Deficiency With Pituitary Anomalies
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
Pituitary Hormone Deficiency, Combined, 1
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Night Blindness, Congenital Stationary, Autosomal Dominant 1
RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
Autosomal recessive hypophosphatemic vitamin D refractory rickets
Hypophosphatemic Rickets, Autosomal Recessive, 1
Constitutional delay of growth and puberty
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
HMN (Hereditary Motor Neuropathy) Proximal Type I
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
Molybdenum Cofactor Deficiency, Complementation Group A
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Diabetes mellitus autosomal dominant type II (disorder)
Maturity onset diabetes mellitus in young
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Saethre-Chotzen Syndrome with Eyelid Anomalies
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Corticosterone Methyl Oxidase Type II Deficiency
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
Charcot-Marie-Tooth disease, Type 4A, axonal form
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
Charcot-Marie-Tooth Disease, Recessive Intermediate A
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Congenital Generalized Lipodystrophy Type 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Pituitary Hormone Deficiency, Combined, 3
Ovotesticular Disorders of Sex Development
Ovotesticular Differences of Sex Development
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
Charcot-Marie-Tooth disease, Type 1D (disorder)
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Combined Oxidative Phosphorylation Deficiency 2
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
Noonan syndrome-like disorder with loose anagen hair
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Combined Cellular And Humoral Immune Defects With Granulomas
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Myasthenic Syndromes, Congenital, Slow Channel
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
Paragangliomas with Sensorineural Hearing Loss
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 1
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
Distal Hereditary Motor Neuropathy, Type II
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
Hyper-IgM Immunodeficiency Syndrome, Type 5
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
Knuckle pads, leuconychia and sensorineural deafness
Progressive hearing loss stapes fixation
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Childhood Ataxia with Central Nervous System Hypomyelinization
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
Congenital disorder of glycosylation type 2A
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Sick Sinus Syndrome 2, Autosomal Dominant
Congenital disorder of glycosylation type 1B
Hereditary Autosomal Dominant Spastic Paraplegia
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Bile acid synthesis defect, congenital, 1
Charcot-Marie-Tooth Disease, Type Ia (disorder)
UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
Congenital disorder of glycosylation type 1A
Congenital Disorder Of Glycosylation, Type In
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
T-cell immunodeficiency, congenital alopecia and nail dystrophy
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
Hereditary liability to pressure palsies
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
Muscular Dystrophy, Limb-Girdle, Type 2G
Familial Glucocorticoid Deficiency Type 1
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
Bare Lymphocyte Syndrome, Type II, Complementation Group B
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Generalized Epilepsy with Febrile Seizures Plus
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nephrogenic Syndrome of Inappropriate Antidiuresis
Lissencephaly and agenesis of corpus callosum
Malformations of Cortical Development, Group II
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
Chondrodysplasia punctata, X-linked dominant type
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
X-linked Charcot-Marie-Tooth disease type 1
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
Exudative Vitreoretinopathy, Familial, X-Linked Recessive
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Night Blindness, Congenital Stationary, Type 1A
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
Familial Mediterranean Fever, Autosomal Dominant
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
TNF receptor-associated periodic fever syndrome (TRAPS)
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
Porokeratosis, Disseminated Superficial Actinic, 3
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
Familial Cold Autoinflammatory Syndrome 2
Peroxisome Biogenesis Disorder, Complementation Group D
Spastic paraplegia 15, autosomal recessive
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
Adverse effects, not elsewhere classified
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Congenital atresia of extrahepatic bile duct
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
Dissecting aneurysm of the thoracic aorta
Malignant neoplasm of gastrointestinal tract
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
Osteogenesis imperfecta type IV (disorder)
Diarrhoea predominant irritable bowel syndrome
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Carnitine palmitoyl transferase 1A deficiency
Platelet Component Distribution Width Measurement
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
Aplasia/Hypoplasia of the cerebellar vermis
Osteogenesis imperfecta, recessive perinatal lethal
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
Early infantile epileptic encephalopathy with suppression bursts
Epilepsy, Benign Neonatal, 1, And-Or Myokymia
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
Retinal dystrophy with early macular involvement
Lymphedema, microcephaly and chorioretinopathy syndrome
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Sialic Acid Storage Disease, Finnish Type (disorder)
Fukuyama Type Congenital Muscular Dystrophy
Medium-chain acyl-coenzyme A dehydrogenase deficiency
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital bilateral aplasia of vas deferens
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group R
Colorectal Adenomatous Polyposis, Autosomal Recessive
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Porokeratotic eccrine ostial and dermal duct nevus
Carnitine palmitoyl transferase 2 deficiency
Hereditary Non-Polyposis Colon Cancer Type 2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
Hereditary Breast and Ovarian Cancer Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Cardiomyopathy dilated with Woolly hair and keratoderma
Neuropathy, hereditary motor and sensory, Russe type
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
Telangiectasia, Hereditary Hemorrhagic, Type 1
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Early Infantile Epileptic Encephalopathy 6
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
Generalized Epilepsy With Febrile Seizures Plus, 7
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
Mental Retardation, Autosomal Dominant 5
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
MENTAL RETARDATION, X-LINKED 93 (disorder)
Porencephaly, Type 1, Autosomal Dominant
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
Cholestasis, progressive familial intrahepatic 4
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
Pyruvate Dehydrogenase E1 Alpha Deficiency
Mental Retardation, X-Linked, Syndromic, Turner Type
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Solute carrier family 35 member A2 congenital disorder of glycosylation
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Siderius X-linked mental retardation syndrome
Congenital disorder of glycosylation type 1y
Cataract, Autosomal Recessive Congenital 3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
Combined Oxidative Phosphorylation Deficiency 4
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
Malignant hyperpyrexia due to anesthesia
Fibrous skin tumor of tuberous sclerosis
Microcephalic primordial dwarfism Alazami type
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Cutis Gyrata Syndrome of Beare And Stevenson
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
Hyperintensity of cerebral white matter on MRI
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
Spastic paraplegia 4, autosomal dominant
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
Absent corpus callosum cataract immunodeficiency
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
Mental Retardation, X-Linked, with Epilepsy
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Morphological abnormality of the semicircular canal
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
Mental Retardation, X-Linked, Syndromic, Christianson Type
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
Mental Retardation, X-Linked, Syndromic 13
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Morphological abnormality of the central nervous system
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Reduced number of intrahepatic bile ducts
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
Epileptic Encephalopathy, Early Infantile, 4
Familial Hypertrophic Cardiomyopathy Type 4
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
Mental Retardation, Autosomal Dominant 4
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Arhinia, choanal atresia, and microphthalmia
Follicular Variant Thyroid Gland Papillary Carcinoma
Secondary malignant neoplasm of female breast
Acute lymphoblastic leukemia with lymphomatous features
Platelet Disorder, Familial, with Associated Myeloid Malignancy
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Metastatic Malignant Neoplasm to the Leptomeninges
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
newly diagnosed non-small cell lung cancer
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
Childhood Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia
Mixed follicular and papillary thyroid carcinoma
Cytogenetically normal acute myeloid leukemia
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
Neutropenia, Severe Congenital, Autosomal Dominant 1
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
3-methylcrotonyl CoA carboxylase 1 deficiency
Microcephaly, Primary Autosomal Recessive, 5
Spinocerebellar Ataxia Type 6 (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder)
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
Gamma aminobutyric acid transaminase deficiency
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Complex partial seizure with impairment of consciousness
Reduced brain N-acetyl aspartate level by MRS
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Cholestasis, benign recurrent intrahepatic 2
Cholestasis, Progressive Familial Intrahepatic, 2
Epidermolysis bullosa simplex, Ogna type
Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
Hereditary Leiomyomatosis and Renal Cell Cancer
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
Hyperuricemic Nephropathy, Familial Juvenile 1
Maturity-Onset Diabetes of the Young, Type 1
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
Spastic paraplegia 11, autosomal recessive
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Deafness, autosomal dominant nonsyndromic sensorineural 22
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
Mental Retardation, Autosomal Dominant 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Hereditary Motor and Sensory-Neuropathy Type II
Rhabdoid Tumor Predisposition Syndrome 2
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Spastic Paraplegia 39, Autosomal Recessive
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
Colorectal cancer, hereditary nonpolyposis, type 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
Hereditary spastic paralysis, infantile onset ascending
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
Age-Related Macular Degeneration type 11
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
Adult junctional epidermolysis bullosa (disorder)
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
Pyruvate Dehydrogenase Complex Deficiency Disease
Mental Retardation, X-Linked, Syndromic 14
Cafe-au-lait macules with pulmonary stenosis
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Focal T2 hyperintense basal ganglia lesion
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
Epilepsy, Nocturnal Frontal Lobe, Type 3
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
Malignant melanoma of skin of upper limb
Malignant melanoma of skin of lower limb
Aortic aneurysm without mention of rupture NOS
Hyperdiploid B Acute Lymphoblastic Leukemia
Non-Hodgkin's lymphoma of central nervous system
Blood thyroid stimulating hormone analysis
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
Amelogenesis imperfecta local hypoplastic form
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
Pulmonary arterial hypertension associated with congenital heart disease
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
EEG with irregular generalized spike and wave complexes
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
Obesity, Hyperphagia, and Developmental Delay
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
Metastasis from malignant tumor of prostate
Childhood B Acute Lymphoblastic Leukemia
Malignant neoplasm of other and unspecified sites
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
Bisphosphonate-Associated Osteonecrosis of the Jaw
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
Nodular Sclerosis Classical Hodgkin Lymphoma
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
Childhood onset sensorineural hearing impairment
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
Hereditary Sensory Autonomic Neuropathy, Type 2
Cholestasis, progressive familial intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1
Severe hereditary factor VIII deficiency disease
Congenital dyserythropoietic anemia, type II
Dipstick assessment of hemoglobin concentration
Lymphoproliferative Disorder of the Skin
Malignant hyperthermia susceptibility type 1
Mental and behavioral disorders due to use of cocaine, unspecified mental and behavioral disorder
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Keratoderma with scleroatrophy of the extremities
Nonsyndromic cleft lip with or without cleft palate
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Pulmonary Atresia with Intact Ventricular Septum
Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta, dominant perinatal lethal
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
Increased variability in muscle fiber diameter
Facial muscle weakness of muscles innervated by CN VII
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
Hereditary and idiopathic neuropathy, unspecified
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
Vascular Cell Adhesion Molecule 1 Measurement
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
Amyotrophic Lateral Sclerosis 4, Juvenile
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Tibial aplasia and ectrodactyly syndrome
Abnormality of cardiovascular system morphology
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Hereditary Sensory Autonomic Neuropathy, Type 1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
Abnormality of the gastrointestinal tract
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
Spastic paraplegia 10, autosomal dominant
Myopathy, congenital nonprogressive with Moebius and Robin sequences
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
Soluble Interleukin 6 Receptor Measurement
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
Congenital dyserythropoietic anemia, type I
Lethal tight skin contracture syndrome (disorder)
Noonan-Like Syndrome With Loose Anagen Hair
Adult Malignant Peripheral Nerve Sheath Tumor
Stage IV Thyroid Gland Papillary Carcinoma AJCC v7
Childhood Malignant Peripheral Nerve Sheath Tumor
Superficial spreading malignant melanoma of skin
Secondary malignant neoplasm of peritoneum
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Adenocarcinoma of the gastroesophageal junction
Childhood Anaplastic Large Cell Lymphoma
Metastatic Malignant Peripheral Nerve Sheath Tumor
Spindle Cell Oncocytoma of the Adenohypophysis
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
Familial Nonmedullary Thyroid Gland Carcinoma
Primary cholangiocarcinoma of intrahepatic biliary tract
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Pancreatic Intraductal Papillary Mucinous Neoplasm
Stage IV Cutaneous Melanoma AJCC v6 and v7
Stage 0 Cutaneous Melanoma AJCC v6 and v7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Abnormal aggressive, impulsive or violent behavior
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
COG5 congenital disorder of glycosylation
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE
Obstructive sleep apnea hypopnea syndrome
Non-ST-segment elevation myocardial infarction (NSTEMI)
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
Pulmonary embolism with pulmonary infarction
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
Disruptive, Impulse Control, and Conduct Disorders
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
GASTRIC CANCER SUSCEPTIBILITY AFTER H. PYLORI INFECTION
Hereditary Sensory Autonomic Neuropathy, Type 5
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
Cryptophthalmos, Unilateral or Bilateral, Isolated
Parkinsonism with favorable response to dopaminergic medication
Abnormal subcutaneous fat tissue distribution
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
Granulocyte Colony Stimulating Factor Measurement
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
Beta Thalassemia, Dominant Inclusion Body Type
Malignant Female Reproductive System Neoplasm
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
Rhizomelic chondrodysplasia punctata, type 2
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Adenosine Triphosphate, Elevated, Of Erythrocytes
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
Abnormal isoelectric focusing of serum transferrin
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
Interleukin 1 Receptor Antagonist Measurement
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
Acid cholesteryl ester hydrolase deficiency, type 2
Preterm premature rupture of membranes (disorder)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
LEBER CONGENITAL AMAUROSIS 10 (disorder)
Continuous spike and waves during slow sleep
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
Cholesteryl Ester Transfer Protein Measurement
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
Eichsfeld type congenital muscular dystrophy
Progressive polyneuropathy with bilateral striatal necrosis
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
Chronic obstructive asthma (with obstructive pulmonary disease)
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
Aromatic amino acid decarboxylase deficiency
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
Spondylometaphyseal dysplasia, 'corner fracture' type
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
Neutropenia, Severe Congenital, Autosomal Recessive 4
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria, CblD Type, Variant 2
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Porphyria, Acute Intermittent, Nonerythroid Variant
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Congenital dyserythropoietic anemia type IV
Pseudohypoaldosteronism, Type I, Autosomal Recessive
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Congenital disorder of glycosylation type 1J
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
3-methylcrotonyl CoA carboxylase 2 deficiency
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
Nonarteritic anterior ischemic optic neuropathy (NAION)
Neonatal thrombosis of cerebral venous sinus
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Renal hepatic pancreatic dysplasia Dandy Walker cyst
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
Combined Oxidative Phosphorylation Deficiency 1
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
Spastic paraplegia 3, autosomal dominant
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Combined Oxidative Phosphorylation Deficiency 5
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hereditary Sensory and Autonomic Neuropathies
Hereditary Motor and Sensory Neuropathies
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Microtia, Hearing Impairment, And Cleft Palate
Parkinson Disease 6, Autosomal Recessive Early-Onset
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
LONG QT SYNDROME 1/2, DIGENIC (disorder)
Central Nervous System Embryonal Tumor, Not Otherwise Specified
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Transient bullous dermolysis of the newborn
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Klinefelter's syndrome - male with more than two X chromosomes
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
Lipodystrophy, Congenital Generalized, Type 4
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
Other and unspecified reactive psychosis
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
Complement decay accelerating factor measurement
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
Displacement of the external urethral meatus
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
Microcephaly, Primary Autosomal Recessive, 6
Congenital deficiency of intrinsic factor
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
Combined D-2- and L-2-hydroxyglutaric aciduria
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
Arthrogryposis, renal dysfunction, and cholestasis 1
Congenital Disorder Of Glycosylation, Type IIH
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Lethal Arthrogryposis With Anterior Horn Cell Disease
Rhizomelic chondrodysplasia punctata, type 3
Bone Fragility with Contractures, Arterial Rupture, and Deafness
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
Diabetes-deafness syndrome maternally transmitted (disorder)
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
Lipodystrophy, Congenital Generalized, Type 3
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
Mental Retardation, Autosomal Dominant 3
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
Epidermal growth factor receptor positive non-small cell lung cancer
Metastatic Malignant Neoplasm in the Viscera
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
Inclusion body myopathy, autosomal dominant
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 2
Fetus affected by placental transfer of anticonvulsant
malignant neoplasm of large intestine stage IV
Patent ductus arteriosus - persisting type
Advanced Lung Non-Squamous Non-Small Cell Carcinoma
Hypermethioninemia due to deficiency of glycine N-methyltransferase
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
Congenital disorder of glycosylation type 1G
Generalized glycogen storage disease of infants
Glycogen Storage Disease Type II, Infantile
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
Deficiency of Uroporphyrinogen III Synthase
Congenital disorder of glycosylation type 1L
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Vasculopathy, Retinal, With Cerebral Leukodystrophy
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
Tooth Agenesis, Selective, With Orofacial Cleft
Hypodontia Oligodontia with Orofacial Cleft
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
Adult onset sensorineural hearing impairment
Sensorineural Deafness With Mild Renal Dysfunction
Familial Cold Autoinflammatory Syndrome 1
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Congenital Disorder of Glycosylation, Type Io
Severe combined immunodeficiency with sensitivity to ionizing radiation
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Restrictive deficit on pulmonary function testing
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
Hypophosphatemic Rickets, Autosomal Recessive, 2
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
Maturity-onset diabetes of the young, type 10
Congenital disorder of glycosylation type 1H
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
Birk-Barel Mental Retardation Dysmorphism Syndrome
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Thiamine responsive megaloblastic anemia syndrome
Leigh Syndrome due to Mitochondrial Complex III Deficiency
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
Molybdenum Cofactor Deficiency, Complementation Group B
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
Argininosuccinic Acid Synthetase Deficiency, Complete
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
Severe combined immunodeficiency due to adenosine deaminase deficiency
Charcot-Marie-Tooth Disease, Dominant Intermediate C
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
Glycogen Storage Disease of Heart, Lethal Congenital
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
Familial encephalopathy with neuroserpin inclusion bodies
Osteopetrosis, mild autosomal recessive form
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
Bartter Syndrome, Type 3, with Hypocalciuria
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
Surfactant Metabolism Dysfunction, Pulmonary, 3
Groenouw corneal dystrophy type I (disorder)
Corneal dystrophy, epithelial basement membrane
Vater Association With Macrocephaly And Ventriculomegaly
Familial Multiple Coagulation Factor Deficiency I
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
Congenital Disorder Of Glycosylation, Type IIB
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Neuronopathy, Distal Hereditary Motor, Type Viib
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
Fibular hypoplasia and complex brachydactyly
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
Spastic Paraplegia 42, Autosomal Dominant
Combined Oxidative Phosphorylation Deficiency 3
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Epilepsy, Nocturnal Frontal Lobe, Type 1
INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
Complement Factor I (C3 inactivator) deficiency
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
Heparin cofactor II deficiency (disorder)
Resistance to Insulin-Like Growth Factor I
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
Epidermolysis bullosa with pyloric atresia
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
Pachyonychia Congenita, Type 2 (disorder)
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Cataracts, and Iris Abnormalities
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Ehlers-Danlos syndrome caused by tenascin-X deficiency
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
Congenital Fibrosis of the Extraocular Muscles
Fibrosis Of Extraocular Muscles, Congenital, 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
Bifid Nose With Or Without Anorectal And Renal Anomalies
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
PITUITARY HORMONE DEFICIENCY, COMBINED, 4
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder)
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
Stickler Syndrome, Type I, Nonsyndromic Ocular
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
Pierre Robin syndrome with fetal chondrodysplasia
Hyperkeratosis of the palms and soles and esophageal papillomas
Antley-Bixler Syndrome with Disordered Steroidogenesis
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
Corticosterone Methyl Oxidase Type I Deficiency
Dentinogenesis imperfecta without osteogenesis imperfecta
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
Dentinogenesis imperfecta - Shield's type III (disorder)
Xeroderma pigmentosum and Cockayne syndrome complex
Autoimmune Lymphoproliferative Syndrome, Type IA
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Increased anterioposterior diameter of thorax
Supratentorial Embryonal Tumor, Not Otherwise Specified
Desmoid Tumor Caused By Somatic Mutation
Solid pseudopapillary tumour of the pancreas
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Philadelphia chromosome positive chronic myelogenous leukemia
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
Philadelphia positive acute lymphocytic leukaemia
Hypoplasia involving bones of the upper limbs
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
Carcinoma of urinary bladder, superficial
Glioneuronal Tumor with Neuropil-Like Islands
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Blastic plasmacytoid dendritic cell neoplasm
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
Core binding factor acute myeloid leukemia
Monoclonal mast cell activation syndrome
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
Primary low grade serous adenocarcinoma of ovary
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Charcot-Marie-Tooth Disease, Dominant Intermediate D
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
Multiple Pterygium Syndrome, Autosomal Dominant
Myopathy, Hyaline Body, Autosomal Recessive
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
Hyperuricemic Nephropathy, Familial Juvenile 2
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
Autosomal dominant tubulointerstitial kidney disease
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Bile acid synthesis defect, congenital, 4
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
Macular corneal dystrophy Type II (disorder)
Cone-rod synaptic disorder, congenital nonprogressive
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
Autosomal dominant primary hypomagnesemia with hypocalciuria
Danish type familial amyloid cardiomyopathy
Metachromatic Leukodystrophy due to Saposin B Deficiency
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Isolated Growth Hormone Deficiency, Type IB
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Sacral defect and anterior sacral meningocele
Neutral Lipid Storage Disease with Myopathy
Wilms tumor and radial bilateral aplasia
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Bile acid synthesis defect, congenital, 2
Congenital absence of germinal epithelium of testes
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Ectodermal dysplasia/ skin fragility syndrome
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
Anemia, Hypochromic Microcytic, With Iron Overload
Mental Retardation, Autosomal Recessive 2
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
Cutis Laxa, Autosomal Recessive, Type IIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
Cholesteryl Ester Transfer Protein Deficiency
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Abnormality of the somatic nervous system
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
Congenital insufficiency of pulmonary valve
B lymphoblastic leukemia lymphoma, no ICD-O subtype
Abnormality of the posterior cranial fossa
Hypointensity of cerebral white matter on MRI
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Febrile infection related epilepsy syndrome
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Reduced quantity of Von Willebrand factor
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Maple Syrup Urine Disease, Thiamine Responsive
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Skin-Hair-Eye Pigmentation, Variation In, 8
Mean corpuscular hemoglobin concentration determination
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
Incomplete congenital stationary night blindness
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis with alopecia and photophobia (IFAP)
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Influenza due to Influenza A virus subtype H7N9
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
malignant neoplasm of lateral wall of oropharynx
Malignant neoplasm of posterior wall of oropharynx
Squamous cell carcinoma of the hypopharynx
Primary malignant neoplasm of lateral wall of oropharynx
Non ST segment elevation acute coronary syndrome
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
Interleukin 1 Receptor-Like 1 Measurement
FACIAL PARESIS, HEREDITARY CONGENITAL, 3
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
Ventricular Fibrillation, Paroxysmal Familial, 1
Latent autoimmune diabetes mellitus in adult
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
Cataract, Congenital Zonular, with Sutural Opacities
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
Idiopathic basal ganglia calcification 1
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
Flexion contracture of proximal interphalangeal joint
Contracture of the proximal interphalangeal joint of the 3rd finger
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Skin/Hair/Eye Pigmentation, Variation In, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
Prognostic Stage II Breast Cancer AJCC v8
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
X-linked agammaglobulinemia with growth hormone deficiency
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6 (disorder)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
Epidermolysis bullosa simplex with mottled pigmentation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
Short rib-polydactyly syndrome, Beemer type
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Hereditary disturbances in tooth structure, NEC in ICD9CM_2014
Progressive cone dystrophy (without rod involvement)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
High Grade Cervical Intraepithelial Neoplasia
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
Muscular Dystrophy, Congenital, Megaconial Type
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
Septicaemia due to gram-negative organism, unspecified
INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
Combined Malonic and Methylmalonic Aciduria
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
Caused by mutation in the zinc finger- and BTB domain-containing protein-42 (ZBTB42, 613915.0001)
Refractory cytopenia with multilineage dysplasia
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
Thrombophilia, X-Linked, Due To Factor Ix Defect
Surfactant Metabolism Dysfunction, Pulmonary, 4
Mild hereditary factor VIII deficiency disease
Moderate hereditary factor VIII deficiency disease
HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
Bare Lymphocyte Syndrome, Type II, Complementation Group A
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Ceroid lipofuscinosis, neuronal 1, infantile
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
Hypotrichosis And Recurrent Skin Vesicles
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
Ichthyosis with hypotrichosis, autosomal recessive
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
Interrupted inferior vena cava with azygous continuation
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Bare Lymphocyte Syndrome, Type II, Complementation Group D
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
Congenital Disorder Of Glycosylation, Type Im
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Surfactant Metabolism Dysfunction, Pulmonary, 1
Isolated Growth Hormone Deficiency, Type II
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
Vulvar Adenocarcinoma of Mammary Gland Type
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Ectodermal dysplasia, hypohidrotic, with immune deficiency
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
Immunodeficiency without anhidrotic ectodermal dysplasia
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
Generalized Epilepsy and Paroxysmal Dyskinesia
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
Elevated circulating parathyroid hormone level
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
Congenital hypertrophy of retinal pigment epithelium
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
Hereditary Myopathy with Early Respiratory Failure
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Mixed respiratory and metabolic acidosis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cerebellar hypoplasia with endosteal sclerosis
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
Abnormal respiratory motile cilium morphology
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Epilepsy of infancy with migrating focal seizures
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Cataract, autosomal recessive congenital 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
Behavioral variant of frontotemporal dementia
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
Compression fracture of vertebral column
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
Total Anomalous Pulmonary Venous Return 1
Impaired vibration sensation in the lower limbs
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
Absence of Lutheran antigen on erythrocytes
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
Frontotemporal Dementia With Motor Neuron Disease
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
Congenital anomaly of gastrointestinal tract
Mixed phenotype acute leukemia T/myeloid
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
Nystagmus and other irregular eye movements
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
Corneal dystrophy, Fuchs' endothelial, 1
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
Deafness and intellectual disability Martin Probst type syndrome
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Hemolytic disease of fetus OR newborn due to RhD isoimmunization
Spastic paraplegia 8, autosomal dominant
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4
EEG with persistent abnormal rhythmic activity
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
Glycogen storage disease due to acid maltase deficiency, infantile onset
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
Peroxisome Biogenesis Disorder, Complementation Group G
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Congenital pontocerebellar hypoplasia type 7
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
MENTAL RETARDATION, X-LINKED 90 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
X-linked myopathy with excessive autophagy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
X-linked recessive nephrolithiasis with renal failure
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
Atypical Mycobacteriosis, Familial, X-Linked 2
Congenital malformation of cardiac chambers and connections, unspecified
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
Thrombocytopenia due to platelet alloimmunization
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
Spinal Muscular Atrophy, Facioscapulohumeral Type
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
Inability to walk by childhood/adolescence
Immunodeficiency due to Defect in CD3-Zeta
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Progeroid Syndrome, Congenital, Petty Type
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE
GERBICH BLOOD GROUP SYSTEM, GERBICH PHENOTYPE
Globe retraction and deviation on adduction
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Inflexible adherence to routines or rituals
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
Myopathy, Early-Onset, with Fatal Cardiomyopathy
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
Congenital Disorder Of Glycosylation, Type IIF
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
Respiratory insufficiency due to muscle weakness
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
Underdeveloped inferior crus of antihelix
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Microcephaly, Primary Autosomal Recessive, 3
Atrophy/Degeneration affecting the central nervous system
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
Congenital disorder of glycosylation, type 2C
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
Spastic Paraplegia, Optic Atrophy, and Neuropathy
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
Anomalous origin of coronary artery from the pulmonary artery
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Decreased proportion of CD8-positive T cells
Ovarian Serous Surface Papillary Adenocarcinoma
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Osteomyelitis leading to amputation due to slow healing fractures
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
Delayed proximal femoral epiphyseal ossification
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
Recurrent infections in infancy and early childhood
Congenital disorder of glycosylation type 2E
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Decreased serum insulin-like growth factor 1
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Aplasia/Hypoplasia of the middle phalanges of the hand
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
Fifth finger distal phalanx clinodactyly
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
Decreased activity of mitochondrial complex I
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
Postural hypotension with compensatory tachycardia
Abnormal pigmentation of the oral mucosa
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
Hyperferritinemia, hereditary, with congenital cataracts
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
Developmental stagnation at onset of seizures
Female external genitalia in individual with 46,XY karyotype
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING
Loss of ability to walk in early childhood
Mental Retardation, X-Linked, With Panhypopituitarism
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Lubs X-linked mental retardation syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Spinal Muscular Atrophy, Distal, X-Linked 3
Abnormal muscle fiber dystrophin expression
Congenital hypoplasia of tricuspid valve
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
Bare Lymphocyte Syndrome, Type II, Complementation Group C
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Neuropathy, Distal Hereditary Motor, Type VIIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
Hepatic venoocclusive disease with immunodeficiency
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
Epilepsy, Childhood Absence, Susceptibility To, 4
Parietal Foramina With Cleidocranial Dysplasia
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
Hereditary Diffuse Leukoencephalopathy with Spheroids
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)
Male infertility with teratozoospermia due to single gene mutation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
EEG with generalized epileptiform discharges
Abnormal timing of pattern reversal visual evoked potentials
Abnormal morphology of left ventricular trabeculae
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Soft tissue swelling of interphalangeal joints
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Natural Killer Cell Deficiency, Familial Isolated
Congenital disorder of glycosylation type 2D
Recurrent upper respiratory tract infection
CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Ectodermal Dysplasia, Pure Hair-Nail Type
Abnormal peripheral nervous system morphology
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
Cutis Laxa, Autosomal Recessive, Type IIA
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Antibody Deficiency due to Defect in CD19
Small cell carcinoma of the ovary, hypercalcemic type
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
Respiratory failure requiring assisted ventilation
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
Congenital disorder of glycosylation, type 2G
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
Hyper-IgM Immunodeficiency Syndrome, Type 3
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
Familial Glucocorticoid Deficiency Type 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
Morphological abnormality of the inner ear
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
X-linked intellectual disability Van Esch type
X-linked cerebral, cerebellar, coloboma syndrome
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Chemokine (C-X-C Motif) Ligand 6 Measurement
Well Differentiated Pancreatic Endocrine Tumor
Thrombophilia due to Thrombomodulin Defect
Reaction to severe stress, and adjustment disorders
BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
blood phenylalanine measurement by Guthrie microbiologic assay
Progressive Familial Heart Block, Type Ib
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
Diabetes Mellitus, Transient Neonatal, 1
Peripheral neuropathy due to and following chemotherapy
Familial Atypical Mole Melanoma Syndrome
Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome Type 2B
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
Refractory anemia with ringed sideroblasts
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
Hantavirus infection in conditions classified elsewhere and of unspecified site
HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY
Low density lipoprotein receptor mutation
ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
Adverse Event Associated with Cardiac Arrhythmia
VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
Severe Fever with Thrombocytopenia Syndrome
FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS
THYROXINE-BINDING GLOBULIN, VARIANT P PHENOTYPE
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Macrophage Colony Stimulating Factor Measurement
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Severe cutaneous adverse reactions (SMQ)
Autosomal dominant late onset Parkinson disease
Immune reconstitution inflammatory syndrome [IRIS]
Pigmented Nodular Adrenocortical Disease, Primary, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
Spondyloepimetaphyseal dysplasia with multiple dislocations
Developmental Delay, Epilepsy, and Neonatal Diabetes
Anti-cyclic citrullinated peptide antibody level
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
Punctate periventricular T2 hyperintense foci
Left aortic arch with retroesophageal right subclavian artery
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
Hereditary Sensory and Autonomic Neuropathy Type Ie
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding)
Neuropathy ataxia and retinis pigmentosa
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
Severe major depression with psychotic features
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
Chronic atrial and intestinal dysrhythmia
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
Microcephaly with Chorioretinopathy, Autosomal Recessive
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
Abnormality of the intrahepatic bile duct
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
Birth length greater than 97th percentile
Congenital malformation of genital organs
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
Large clumps of pigment irregularly distributed along hair shaft
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
Jejunal Atresia with Microcephaly and Ocular Anomalies
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family)
Ehlers-Danlos syndrome, type 3 (disorder)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
Cytochrome C oxidase-negative muscle fibers
Decreased activity of the pyruvate dehydrogenase complex
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
Central nervous system depression (disorder)
CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
Epstein-Barr virus associated gastric carcinoma
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
Neuropathy, hereditary motor and sensory, Okinawa type
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
Autoimmune Hepatitis with Centrilobular Necrosis
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
Chemokine (C-C Motif) Ligand 19 Measurement
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
Acute encephalopathy with biphasic seizures and late reduced diffusion
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
THYROXINE-BINDING GLOBULIN, VARIANT A PHENOTYPE
Human immunodeficiency virus II infection
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
Pyloric Stenosis, Infantile Hypertrophic 1
Peroxisome Biogenesis Disorder, Complementation Group C
Gastro-esophageal reflux disease with esophagitis
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
Adult attention deficit hyperactivity disorder
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
Behavioural and psychiatric symptoms of dementia
Hepatitis C Virus-Related Hepatocellular Carcinoma
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Aplasia/Hypoplasia involving the central nervous system
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
Congenital disorder of glycosylation type 1q
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Scapuloperoneal Form of Spinal Muscular Atrophy
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
Peroxisome Biogenesis Disorder, Complementation Group 7
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
Selective mutism specific to childhood and adolescence
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
Primary pigmented nodular adrenocortical disease
Primary Pigmented Nodular Adrenal Dysplasia
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
X-linked reduction of thyroxine-binding globulin
Familial Amyloid Neuropathy, Portuguese Type
EEG with centrotemporal focal spike waves
Premature delivery because of cervical insufficiency or membrane fragility
Behavioral and psychological symptoms of dementia
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
Neutropenia, Severe Congenital, Autosomal Dominant 2
Neutropenia, Nonimmune Chronic Idiopathic, Adult
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
Hypertrophic disorder of skin, unspecified
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Hereditary cystatin C amyloid angiopathy
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Slowed Nerve Conduction Velocity, Autosomal Dominant
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Juvenile idiopathic arthritis, enthesitis related arthritis
POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
Childhood T Acute Lymphoblastic Leukemia
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
Tsc2 Angiomyolipomas, Renal, Modifier Of
Vascular Endothelial Growth Factor Receptor 2 Measurement
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Spastic Paraplegia 33, Autosomal Dominant
Decreased activity of mitochondrial complex II
CANCER PROGRESSION AND TUMOR CELL MOTILITY
Skin-Hair-Eye Pigmentation, Variation In, 10
PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
Diffuse palmoplantar keratoderma, Bothnian type
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Anomalous branches of internal carotid artery
Patent ductus arteriosus after birth at term
Enlarged epiphyses of the proximal phalanges of the hand
Contracture of the distal interphalangeal joint of the fingers
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
Short rib-polydactyly syndrome, Verma-Naumoff type
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
Beta-Aminoisobutyric Acid, Urinary Excretion of
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
SHORT-RIB THORACIC DYSPLASIA 20/7 WITH POLYDACTYLY, DIGENIC (1 patient)
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
Cystic Kidney Disease with Ventriculomegaly
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Weakness due to upper motor neuron dysfunction
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
Neurodegeneration with brain iron accumulation (NBIA)
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO
Polyposis Of Gastric Fundus Without Polyposis Coli
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
LEBER CONGENITAL AMAUROSIS 12 (disorder)
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Congenital disorder of glycosylation type 1r
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
Ceroid Lipofuscinosis, Neuronal, Parry Type
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
Cutaneous syndactyly between fingers 2 and 5
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
Skin-Hair-Eye Pigmentation, Variation In, 11
Carbohydrate deficient glycoprotein syndrome type 2k
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
Activated B-cell type diffuse large B-cell lymphoma
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
Low Grade Squamous Intraepithelial Neoplasia
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
Autosomal recessive limb girdle muscular dystrophy type 2S
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Spondyloepimetaphyseal Dysplasia With Joint Laxity
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
X-linked Charcot-Marie-Tooth disease type 6
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 4
Congenital pontocerebellar hypoplasia type 8
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
Molybdenum Cofactor Deficiency, Complementation Group C
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
Severe dermatitis, multiple allergies, metabolic wasting syndrome
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
Leukemia, Megakaryoblastic, of Down Syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
Sudden unexpected nocturnal death syndrome
Chemokine (C-C Motif) Ligand 21 Measurement
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF
Hemolytic disease of fetus OR newborn due to ABO immunization
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Heart failure with preserved ejection fraction [HFpEF]
Chronic rhinosinusitis with nasal polyps
Anatomic Stage III Breast Cancer AJCC v8
Prognostic Stage III Breast Cancer AJCC v8
ST-segment elevation myocardial infarction (STEMI)
Left ventricular outflow tract obstruction
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2
Growth Hormone-Producing Pituitary Gland Neoplasm
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 PHENOTYPE
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
Incomplete partition of the cochlea type II
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
Autosomal recessive congenital methemoglobinemia type I
Primary immunoglobulin A nephropathy (disorder)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
Kallikrein, Decreased Urinary Activity of
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
Maturity-onset diabetes of the young, type 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
Recurrent upper and lower respiratory tract infections
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Microphthalmos co-occurrent with congenital ocular coloboma
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1X
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
MORBID OBESITY AND SPERMATOGENIC FAILURE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Visceral Neuropathy, Familial, Autosomal Dominant
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
Cataract, Congenital Nuclear, Autosomal Recessive 2
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
STING-associated vasculopathy with onset in infancy
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
T-Cell Large Granular Lymphocyte Leukemia
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
Susceptibility to viral and mycobacterial infection
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
Macular hypopigmented whorls, streaks, and patches
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Constitutional Mismatch Repair Deficiency Syndrome
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA
Skin fragility with non-scarring blistering
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder)
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Ventricular Fibrillation, Paroxysmal Familial, 2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
End stage renal disease due to hypertension
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
Cerebellar ataxia associated with quadrupedal gait
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
Dementia due to Alzheimer's disease (disorder)
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
Supranuclear Palsy, Progressive, 1, Atypical
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
Late onset congenital adrenal hyperplasia
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder)
CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO
Spastic paraplegia 13, autosomal dominant
Bowing of limbs due to multiple fractures
Ehlers-Danlos syndrome cardiac valvular type
SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO
ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
Pyloric Stenosis, Infantile Hypertrophic, 5
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
Atrophia Maculosa Varioliformis Cutis, Familial
Acute exacerbation of chronic obstructive airways disease
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
Behavioral syndrome associated with physiological disturbance and physical factors
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
Abnormal liver function tests during pregnancy
Atrial Septal Defect with Atrioventricular Conduction Defects
Bile Acid Synthesis Defect, Congenital, 3
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH FRONTOTEMPORAL DEMENTIA
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES
LETHAL CONGENITAL CONTRACTURE SYNDROME 6
Autistic spectrum disorder with isolated skills
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
Dynein arm defect of respiratory motile cilia
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
Deafness, Sensorineural, And Male Infertility
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
Decreased light- and dark-adapted electroretinogram amplitude
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Autoimmune polyendocrinopathy syndrome, type 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 10
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11
Advanced Laryngeal Squamous Cell Carcinoma
Intermediate Grade Ductal Breast Carcinoma In Situ
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
Bladder Exstrophy and Epispadias Complex
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Non-Metastatic Childhood Soft Tissue Sarcoma
Craniometaphyseal dysplasia, autosomal recessive type
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Brain dopamine-serotonin vesicular transport disease
Hypotonia, speech impairment, severe cognitive delay syndrome
Adult Nodular Sclerosis Classical Hodgkin Lymphoma
Childhood Nodular Sclerosis Classic Hodgkin Lymphoma
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
Transthyretin related familial amyloid cardiomyopathy
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
Abnormality of inferior oblique extraocular muscle
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
Ulnar-Fibular Ray Defect and Brachydactyly
Mediastinal (Thymic) Large B-Cell Lymphoma
Myelodysplastic Syndrome with Isolated del(5q)
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Abnormality of somatosensory evoked potentials
Abnormality of blood and blood-forming tissues
Absence of stomach bubble on fetal sonography
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Megacystis microcolon intestinal hypoperistalsis syndrome
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
SURF1-related Charcot-Marie-Tooth disease type 4
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
X-linked hereditary motor and sensory neuropathy
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
Autosomal dominant focal segmental glomerulosclerosis
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
Mitochondrial myopathy with lactic acidosis
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
Partial thromboplastin time increased (finding)
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Interleukin 2 Receptor, Alpha, Deficiency of
Immunoglobulin G subclass deficiency (finding)
Primitive reflexes (palmomental, snout, glabellar)
Abnormality of the vertebral spinous processes
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
Dyskinesia, Familial, with Facial Myokymia
High molecular weight kininogen deficiency
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
Abnormal basal ganglia MRI signal intensity
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME
Facial onset sensory and motor neuronopathy syndrome
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
Disorders of both mitral and tricuspid valves
Cochleosaccular degeneration of the inner ear and progressive cataracts
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
Arthrogryposis multiplex congenita, distal, X-linked
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
Autoimmune Lymphoproliferative Syndrome, Type IB
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding)
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
Generalized tonic-clonic seizures with focal onset
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
Abnormality of the middle phalanx of the 5th finger
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Renal dysplasia and retinal aplasia (disorder)
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS
Decreased activity of mitochondrial ATP synthase complex
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
Polycystic Kidney, Type 1 Autosomal Dominant Disease
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
Polymicrogyria With Optic Nerve Hypoplasia
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
Macrodontia of permanent maxillary central incisor
Bilateral single transverse palmar creases
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
Enlargement of the proximal femoral epiphysis
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
Congenitally corrected transposition of the great arteries with ventricular septal defect
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
Abnormality of the renal collecting system
46, XX Testicular Disorders of Sex Development
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
Tapering pointed ends of distal finger phalanges
Anti-multiple nuclear dots antibody positivity
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
Congenital duodenal obstruction due to malrotation of intestine
Autosomal dominant neovascular inflammatory vitreoretinopathy
Large cafe-au-lait macules with irregular margins
PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding)
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Congenital thrombotic disease, due to Protein C deficiency
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
Left Ventricular Systolic Dysfunction, CTCAE 3.0
Left Ventricular Systolic Dysfunction, CTCAE 5.0
Hereditary factor XII deficiency disease