Hypocalcemia, autosomal dominant, with Bartter syndrome

Spastic paraplegia 8, autosomal dominant

Myasthenic syndrome, congenital, 4A, slow-channel

Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Cutis laxa, autosomal recessive, type IIB

Neutropenia, severe congenital 2, autosomal dominant

Platelet-activating factor acetylhydrolase deficiency

Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

[Hereditary persistence of alpha-fetoprotein]

Ventricular tachycardia, catecholaminergic polymorphic, 3

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

Spinocerebellar ataxia, autosomal recessive 7

Mitochondrial pyruvate carrier deficiency

Arterial calcification, generalized, of infancy, 2

Digital arthropathy-brachydactyly, familial

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Mental retardation, X-linked syndromic, Christianson type

Mental retardation, X-linked, syndromic 14

Ichthyosis, congenital, autosomal recessive 11

Myopathy, proximal, with early respiratory muscle involvement

Bare lymphocyte syndrome, type I, due to TAP2 deficiency

Neuropathy, hereditary motor and sensory, Russe type

Atrioventricular septal defect, partial, with heterotaxy syndrome

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Spastic paraplegia, optic atrophy, and neuropathy

Rhizomelic chondrodysplasia punctata, type 5

Mandibulofacial dysostosis with alopecia,

Muscular dystrophy, limb-girdle, type 1G

Spondylometaphyseal dysplasia with cone-rod dystrophy

Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis

Mental retardation and distinctive facial features with or without cardiac defects

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia

Rickets due to defect in vitamin D 25-hydroxylation

Arrhythmogenic right ventricular dysplasia 5

Arrhythmogenic right ventricular dysplasia 9

Congenital disorder of glycosylation, type In

Crouzon syndrome with acanthosis nigricans

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1

Epilepsy, generalized, with febrile seizures plus, type 7

Cutis laxa, autosomal recessive, type IB

Short stature, optic nerve atrophy, and Pelger-Huet anomaly

Lissencephaly 7 with cerebellar hypoplasia

Mental retardation, autosomal dominant 31

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

Deafness, dystonia, and cerebral hypomyelination

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Autoimmune lymphoproliferative syndrome, type III

Acrodysostosis 2, with or without hormone resistance

Ichthyosis, congenital, autosomal recessive 8

Ichthyosis, congenital, autosomal recessive 9

Multisystemic smooth muscle dysfunction syndrome

Aldosteronism, glucocorticoid-remediable

Complement component 4, partial deficiency of

Muscular dystrophy, limb-girdle, type 1B

Mitochondrial respiratory chain complex II deficiency

Congenital disorder of glycosylation, type Iic

Left ventricular noncompaction 1, with or without congenital heart defects

Mandibuloacral dysplasia with type B lipodystrophy

Hyperinsulinemic hypoglycemia, familial, 7

Thrombophilia due to protein S deficiency, autosomal dominant

Leukoencephalopathy, cystic, without megalencephaly

Bronchiectasis with or without elevated sweat chloride 2

Nephrotic syndrome, type 5, with or without ocular abnormalities

Advanced sleep phase syndrome, familial, 1

Palmoplantar keratoderma and woolly hair

Muscular dystrophy, limb-girdle, type 1F

Ichthyosis, congenital, autosomal recessive 10

Spastic paraplegia 12, autosomal dominant

Amyotrophic lateral sclerosis 5, juvenile

Stapes ankylosis with broad thumb and toes

Metaphyseal dysplasia without hypotrichosis

Pseudohermaphroditism, male, with gynecomastia

Scapuloperoneal myopathy, X-linked dominant

Congenital disorder of glycosylation, type Ib

Spastic paraplegia 11, autosomal recessive

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

Neuropathy, congenital hypomyelinating, 1

Glycine encephalopathy with normal serum glycine

Generalized epilepsy with febrile seizures plus, type 9

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Short-rib thoracic dysplasia 10 with or without polydactyly

Combined D-2- and L-2-hydroxyglutaric aciduria

Epileptic encephalopathy, early infantile

Microcephaly 4, primary, autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

Muscular dystrophy, congenital, megaconial type

Ataxia, posterior column, with retinitis pigmentosa

Keratoderma, palmoplantar, with deafness

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Epidermolysis bullosa, junctional, with pyloric stenosis
Epidermolysis bullosa, junctional, with pyloric atresia

Neutropenia, severe congenital, X-linked

Reducing body myopathy, X-linked 1b, with late childhood or adult onset

Diabetes mellitus, insulin-resistant, with acanthosis nigricans

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal

Arthrogryposis, lethal, with anterior horn cell disease

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2,

Hypoparathyroidism-retardation-dysmorphism syndrome

Ichthyosis, congenital, autosomal recessive 12

Vascular malformation, primary intraosseous

Ehlers-Danlos syndrome, progeroid type, 2

Linear skin defects with multiple congenital anomalies 2

Convulsions, familial infantile, with paroxysmal choreoathetosis

Mental retardation, autosomal dominant 7

Surfactant metabolism dysfunction, pulmonary, 5

Hereditary persistence of fetal hemoglobin

Homocystinuria-megaloblastic anemia, cbl E type

Mental retardation, X-linked syndromic, Turner type

Agammaglobulinemia and isolated hormone deficiency

Platelet disorder, familial, with associated myeloid malignancy

Leukoencephalopathy with vanishing white matter

Polymicrogyria, bilateral frontoparietal

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Myopathy due to myoadenylate deaminase deficiency

Capillary malformation-arteriovenous malformation

Spinal muscular atrophy, distal, autosomal recessive, 2

Mental retardation, X-linked, syndromic 11, Shashi type

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities

Multiple congenital anomalies-hypotonia-seizures syndrome 2

Hypogonadotropic hypogonadism 14 with or without anosmia

Conotruncal heart malformations, variable

Bile acid synthesis defect, congenital, 2

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities

Linear skin defects with multiple congenital anomalies 1

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants

Spondyloepiphyseal dysplasia, Kimberley type

Growth retardation with deafness and mental retardation due to IGF1 deficiency

Methylmalonate semialdehyde dehydrogenase deficiency

Thrombophilia due to protein S deficiency, autosomal recessive

Microcephaly 17, primary, autosomal recessive

Syndactyly, mesoaxial synostotic, with phalangeal reduction

Dyserythropoietic anemia, congenital, type Ib

Multiple mitochondrial dysfunctions syndrome 1

Hereditary motor and sensory neuropathy, type Iic

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Dihydrolipoamide dehydrogenase deficiency

Spondylometaepiphyseal dysplasia, short limb-hand type

5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency

Mental retardation-hypotonic facies syndrome, X-linked

Peroxisome biogenesis disorder 1B (NALD/IRD)

Glomerulopathy with fibronectin deposits 2

Leukoencephaly with vanishing white matter

Thalassemia-beta, dominant inclusion-body

Nephropathy with pretibial epidermolysis bullosa and deafness

Deafness, congenital with inner ear agenesis, microtia, and microdontia

Pituitary hormone deficiency, combined, 1

Lipodystrophy, congenital generalized, type 4

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Porokeratosis 8, disseminated superficial actinic type

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Agammaglobulinemia 7, autosomal recessive

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

Mandibulofacial dysostosis, Guion-Almeida type

Pancreatic agenesis and congenital heart defects

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

Rhabdoid tumor predisposition syndrome 2

Ehlers-Danlos syndrome, cardiac valvular form

Succinic semialdehyde dehydrogenase deficiency

Retinitis pigmentosa-12, autosomal recessive

Corticosteroid-binding globulin deficiency

Thrombophilia due to protein C deficiency, autosomal recessive

Immunodeficiency due to purine nucleoside phosphorylase deficiency

VATER association with macrocephaly and ventriculomegaly

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Premature aging syndrome, Penttinen type

Myopathy, isolated mitochondrial, autosomal dominant

Neuronopathy, distal hereditary motor, type IID

Spinocerebellar ataxia, autosomal recessive 18

Epilepsy, familial focal, with variable foci 1

Polyglucosan body myopathy 1 with or without immunodeficiency

Spinocerebellar ataxia, autosomal recessive 13

Night blindness, congenital stationary (complete), 1E, autosomal recessive

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

Thyroid hormone resistance, selective pituitary

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Supranuclear palsy, progressive atypical

Sandhoff disease, infantile, juvenile, and adult forms

Mental retardation, X-linked syndromic 5

Microcephaly 5, primary, autosomal recessive

Myasthenic syndrome, congenital, 1B, fast-channel

Mitochondrial DNA depletion syndrome 2 (myopathic type)

Tumoral calcinosis, familial, normophosphatemic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Nijmegen breakage syndrome-like disorder

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Spastic paraplegia 9A, autosomal dominant

Autoimmune lymphoproliferative syndrome, type V

Agammaglobulinemia 8, autosomal dominant

Spinal muscular atrophy, lower extremity-predominant, 2, AD

Cerebellar ataxia and hypogonadotropic hypogonadism

Periodic fever, menstrual cycle dependent

Dyserythropoietic anemia, congenital, type IV

Ectodermal dysplasia-syndactyly syndrome 1

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

Spastic paraplegia 4, autosomal dominant

Vasculopathy, retinal, with cerebral leukodystrophy

Acyl-CoA dehydrogenase, medium chain, deficiency of

3-Methylcrotonyl-CoA carboxylase 2 deficiency

Metachromatic leukodystrophy due to SAP-b deficiency

Emery-Dreifuss muscular dystrophy 6, X-linked
Myopathy, X-linked, with postural muscle atrophy

Chondrodysplasia punctata, X-linked recessive

Pyruvate dehydrogenase E1-alpha deficiency

Myasthenic syndrome, congenital, 1A, slow-channel

Disordered steroidogenesis due to cytochrome P450 oxidoreductase

Adenine phosphoribosyltransferase deficiency

Surfactant metabolism dysfunction, pulmonary, 1

Leukoencephalopathy, brain calcifications, and cysts

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

Hennekam lymphangiectasia-lymphedema syndrome 1

Epiphyseal dysplasia, multiple, with myopia and deafness

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

Chondrodysplasia punctata, X-linked dominant

Frontotemporal lobar degeneration with ubiquitin-positive inclusions

Hemolytic anemia due to adenylate kinase deficiency

Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Cholestasis, progressive familial intrahepatic 2

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma