Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

Premature chromosome condensation with microcephaly and mental retardation

46XY gonadal dysgenesis, complete or partial, with or without adrenal failure

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency

Left ventricular noncompaction 1, with or without congenital heart defects

{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}

Mental retardation, X-linked, syndromic 6, with gynecomastia and obesity

Chronic granulomatous disease, autosomal, due to deficiency of CYBA

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

Motor neuronopathy, distal hereditary, with vocal cord paralysis

{Vitiligo-associated multiple autoimmune disease susceptibility 1}

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency

{Hypercholesterolemia, familial, due to LDLR defect, modifier of}

Mental retardation, severe, with spasticity and tapetoretinal degeneration

Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

Adrenal insufficiency, congenital with or without 46, XY sex reversal

{Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}

Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy

{Congestive heart failure and beta-blocker response, modifier of}

{Attention deficit-hyperactivity disorder, susceptibility to, 7}

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)

Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency

Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

Immunodeficiency-centromeric instability-facial anomalies syndrome

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency

{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}

Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

Left ventricular noncompaction 3, with or without dilated cardiomyopathy

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

Progressive external ophthalmoplegia with mitochondrial DNA deletions 3

{Systemic lupus erythematosus, susceptibility to or protection against}

Woolly hair, autosomal recessive 2 with or without hypotrichosis

Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism

{Bronchiectasis with or without elevated sweat chloride 1, modifier of}

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Growth retardation with deafness and mental retardation due to IGF1 deficiency

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2

Craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in

{Attention deficit-hyperactivity disorder, susceptibility to, 6}

Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema

Congenital hereditary endothelial dystrophy of cornea, autosomal dominant

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency

{Attention deficit-hyperactivity disorder, susceptibility to, 5}

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

Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism

{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

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

46XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion (4)

Candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease

Disordered steroidogenesis due to cytochrome P450 oxidoreductase

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

Gyrate atrophy of choroid and retina with or without ornithinemia

{Systemic lupus erythematosus with nephritis, susceptibility to, 1}

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

Microcephaly, postnatal progressive, with seizures and brain atrophy

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency

Mental retardation, X-linked, with isolated growth hormone deficiency

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion 2

Immune dysfunction with T-cell inactivation due to calcium entry defect 1

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}

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

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

Hirschsprung disease, cardiac defects, and autonomic dysfunction

Spinal muscular atrophy, congenital nonprogressive, of lower limbs

Phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE

Deafness, neurosensory, without vestibular involvement, autosomal dominant

Osteochondritis dissecans, short stature, and early-onset osteoarthritis

{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}

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

Immunodeficiency due to purine nucleoside phosphorylase deficiency

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

Frontotemporal lobar degeneration with ubiquitin-positive inclusions

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency

Spinocerebellar ataxia, autosomal recessive with axonal neuropathy

{Major depressive disorder and accelerated response to antidepressant drug treatment}

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Mental retardation, anterior maxillary protrusion, and strabismus

Atrioventricular septal defect, partial, with heterotaxy syndrome

Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome

Paragangliomas, familial nonchromaffin, 1, with or without deafness

Obesity, adrenal insufficiency, and red hair due to POMC deficiency

Growth retardation, developmental delay, coarse facies, and early death

Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4

Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy

Band-like calcification with simplified gyration and polymicrogyria

Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities

Immune dysfunction, with T-cell inactivation due to calcium entry defect 2

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (4)

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

Gastric cancer, familial diffuse, with or without cleft lip and/or palate

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}

Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

Candidiasis, familial chronic mucocutaneous, autosomal recessive

Adenocarcinoma of lung, response to tyrosine kinase inhibitor in

Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism

{Systemic lupus erythematosus with nephritis, susceptibility to, 3}

Optic nerve hypoplasia and abnormalities of the central nervous system

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4)

Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

{Systemic lupus erythematous, association with susceptibility to, 6}

Polycystic kidney disease, infantile severe, with tuberous sclerosis

Mental retardation, truncal obesity, retinal dystrophy, and micropenis

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia

Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (4)

Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia

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

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

{Thrombophilia, susceptibility to, due to activated protein C resistance}

Foveomacular dystrophy, adult-onset, with choroidal neovascularization

{Systemic lupus erythematous, association with susceptibility to, 11}

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches

Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy

Alveolar capillary dysplasia with misalignment of pulmonary veins

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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Leukemia, Philadelphia chromosome-positive, resistant to imatinib

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

{Systemic lupus erythematosus with nephritis, susceptibility to, 2}

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5

{Coronary artery disease in familial hypercholesterolemia, protection against}

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses

Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits

Epilepsy, X-linked, with variable learning disabilities and behavior disorders

Male infertility with large-headed, multiflagellar, polyploid spermatozoa

Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Mental retardation with language impairment and autistic features

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

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

Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia

{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}

Hydrocephalus with congenital idiopathic intestinal pseudoobstruction

{Transcription of plasminogen activator inhibitor, modulator of}

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

Waardenburg syndrome, type 2E, with or without neurologic involvement

Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas

Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques