Multiple pterygium syndrome, lethal type

Pituitary hormone deficiency, combined, 4

Progressive familial heart block, type IB

Myopathy, myosin storage, autosomal dominant

Ciliary dyskinesia, primary, 9, with or without situs inversus

Cholestasis, progressive familial intrahepatic 1

Mucopolysaccharidosis type IIIB (Sanfilippo B)

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Spinal muscular atrophy with progressive myoclonic epilepsy

Muscular dystrophy, limb-girdle, type 1A

Porphyria, acute intermittent, nonerythroid variant

Peroxisome biogenesis disorder 1A (Zellweger)

McLeod syndrome with or without chronic granulomatous disease

Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome

Woolly hair, autosomal recessive 1, with or without hypotrichosis

Gaze palsy, horizontal, with progressive scoliosis

Epidermolysis bullosa, generalized atrophic benign

Glucocorticoid deficiency, due to ACTH unresponsiveness

Diastrophic dysplasia, broad bone-platyspondylic variant

Spondylometaphyseal dysplasia, Sedaghatian type

Pseudohyperkalemia, familial, 2, due to red cell leak

Dyskinesia, familial, with facial myokymia

Ehlers-Danlos syndrome, musculocontractural type 1

Mental retardation, X-linked, Snyder-Robinson type

Microcephalic osteodysplastic primordial dwarfism, type II

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

Pigmentary disorder, reticulate, with systemic manifestations, X-linked

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

Hyperekplexia, hereditary 1, autosomal dominant or recessive

Anemia, hemolytic, Rh-null, regulator type

Mental retardation, with or without nystagmus

Spondyloepimetaphyseal dysplasia, Missouri type

Palmoplantar keratoderma, Nagashima type

Hypogonadotropic hypogonadism 2 with or without anosmia

Muscular dystrophy, limb-girdle, type 2L

Growth hormone deficiency with pituitary anomalies
Pituitary hormone deficiency, combined, 5

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

Corneal endothelial dystrophy and perceptive deafness

Pseudovaginal perineoscrotal hypospadias

Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset

Renal tubular acidosis, distal, autosomal recessive

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

Factor XI deficiency, autosomal dominant
Factor XI deficiency, autosomal recessive

Candidiasis, familial, 2, autosomal recessive

Neuropathy, distal hereditary motor, type VA

Atrial septal defect 7, with or without AV conduction defects

Neuromuscular disease, congenital, with uniform type 1 fiber

Pulmonary hypertension, familial primary, 1, with or without HHT

Trichothiodystrophy 4, nonphotosensitive

Hyper-IgE recurrent infection syndrome, autosomal recessive

Methylmalonic aciduria and homocystinuria, cblC type

Epileptic encephalopathy, early infantile, 9

Maturity-onset diabetes of the young, type VIII

Short-rib thoracic dysplasia 3 with or without polydactyly

B-cell expansion with NFKB and T-cell anergy

Neuropathy, distal hereditary motor, type IIA

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Venous malformations, multiple cutaneous and mucosal

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome

Bronchiectasis with or without elevated sweat chloride 1

Methylmalonic aciduria and homocystinuria, cblD type
Methylmalonic aciduria, cblD type, variant 2

Nephrogenic syndrome of inappropriate antidiuresis

Amelogenesis imperfecta, type IG (enamel-renal syndrome)

Mental retardation, autosomal dominant 1

Stickler sydrome, type I, nonsyndromic ocular

Sensorineural deafness with mild renal dysfunction

Progressive external ophthalmoplegia, autosomal dominant 1

Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated

Scapuloperoneal syndrome, myopathic type

Fletcher factor (prekallikrein) deficiency

Parietal foramina with cleidocranial dysplasia

Hyperbilirubinemia, familial transient neonatal

Ehlers-Danlos syndrome, type VI, 225400 (3)

Peroxisome biogenesis disorder 5A (Zellweger)

Popliteal pterygium syndrome, Bartsocas-Papas type

Ceroid lipofuscinosis, neuronal, 4, Parry type

Short-rib thoracic dysplasia 6 with or without polydactyly

Hyperphosphatasia with mental retardation syndrome 1

Pseudohypoaldosteronism type I, autosomal dominant

Amyotrophic lateral sclerosis 4, juvenile

Spastic paraplegia 79, autosomal recessive

Pituitary adenoma, growth hormone-secreting

Hypercarotenemia and vitamin A deficiency, autosomal dominant

Neutropenia, severe congenital 1, autosomal dominant

Anemia, hypochromic microcytic, with iron overload 1

Thrombotic thrombocytopenic purpura, familial

Spondylometaphyseal dysplasia, Kozlowski type

Spinal muscular atrophy, late-onset, Finkel type

Optic nerve hypoplasia and abnormalities of the central nervous system

Hypophosphatemic rickets, autosomal dominant

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

Hypogonadotropic hypogonadism 23 with or without anosmia

Basal ganglia calcification, idiopathic, 6

Mitochondrial myopathy with lactic acidosis

Gastrointestinal defects and immunodeficiency syndrome

Short-rib thoracic dysplasia 9 with or without polydactyly

Methylmalonic aciduria, vitamin B12-responsive

Corneal dystrophy, epithelial basement membrane

Hyperuricemic nephropathy, familial juvenile 1

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

Vitamin K-dependent clotting factors, combined deficiency of, 1

Mucopolysaccharidosis type IIIC (Sanfilippo C)

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation

Muscular dystrophy, limb-girdle, type 1E

Fibrosis of extraocular muscles, congenital, 3A

Microcephaly and chorioretinopathy, autosomal recessive, 1

Microcephalic osteodysplastic primordial dwarfism, type I

Megaloblastic anemia due to dihydrofolate reductase deficiency

Hypophosphatemic rickets with hypercalciuria

Retinal dystrophy, early-onset, with or without pituitary dysfunction