At a Glance
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;
11p partial monosomy syndrome;
2-methyl-3-hydroxybutyric aciduria
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Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
11p partial monosomy syndrome
2-methyl-3-hydroxybutyric aciduria
22q13.3 deletion syndrome
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3-Methylglutaconic aciduria
3-methylcrotonyl CoA carboxylase 2 deficiency
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-Hydroxyphenylpyruvate dioxygenase deficiency
ATR-X syndrome
Aarskog syndrome
Achondroplasia
Acquired hemoglobin H disease
Acrocallosal syndrome, Schinzel type
Acrocephalosyndactyly type I
Acrodysostosis
Acrodysostosis 2, with or without hormone resistance
Acromicric dysplasia
Acute intermittent porphyria
Acute neuronopathic Gaucher's disease
Adenylosuccinate lyase deficiency
Adolescent nephronophthisis
Adrenoleukodystrophy
Age-related macular degeneration 3
Age-related macular degeneration 5
Aicardi Goutieres syndrome 5
Aicardi-goutieres syndrome 6
Alexander's disease
Allan-Herndon-Dudley syndrome
Alpha-1-antitrypsin deficiency
Alpha-fetoprotein, hereditary persistence of
Alternating hemiplegia of childhood
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alzheimer disease, type 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Aminoacylase 1 deficiency
Amyloidogenic transthyretin amyloidosis
Androgen resistance syndrome
Angelman syndrome
Aniridia, cerebellar ataxia, and mental retardation
Antley-Bixler syndrome
Anxiety
Arginase deficiency
Arthrogryposis multiplex congenita
Asperger syndrome X-linked 1
Ataxia-telangiectasia syndrome
Atrial myxoma, familial
Atrial septal defect 7 with or without atrioventricular conduction defects
Atrophia bulborum hereditaria
Attention deficit-hyperactivity disorder 7
Autism 15
Autism 17
Autism, susceptibility to, X-linked 1
Autism, susceptibility to, X-linked 3
Autistic disorder of childhood onset
Autosomal recessive centronuclear myopathy
Autosomal recessive cutis laxa type 2B
Autosomal recessive cutis laxa type 3B
Autosomal recessive cutis laxa type IA
Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome
Basal ganglia calcification, idiopathic, 3
Basal ganglia disease, biotin-responsive
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Benign familial neonatal seizures 1
Bent bone dysplasia syndrome
Beta-D-mannosidosis
Birk Barel mental retardation dysmorphism syndrome
Bone mineral density quantitative trait locus 1
Brachydactyly-Mental Retardation syndrome
Breast cancer 3
Breast cancer, 11-22 translocation-associated
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Breast-ovarian cancer, familial 3
Breast-ovarian cancer, familial 4
Budd-Chiari syndrome
Bulbo-spinal atrophy X-linked
CHARGE association
COACH syndrome
Cafe au lait spots, multiple
Café-au-lait macules with pulmonary stenosis
Camptodactyly, tall stature, and hearing loss syndrome
Carbohydrate-deficient glycoprotein syndrome type II
Carcinoma of cervix
Carcinoma of pancreas
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 2
Carney complex, type 1
Carpal tunnel syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Cerebellar ataxia, nonprogressive, with mental retardation
Cerebral palsy, spastic quadriplegic, 3
Cerebral palsy, spastic quadriplegic, 4
Cerebral palsy, spastic quadriplegic, 5
Cerebral palsy, spastic quadriplegic, 6
Cerebro-oculo-facio-skeletal syndrome
Cerebrooculofacioskeletal syndrome 2
Cerebroretinal microangiopathy with calcifications and cysts
Ceroid lipofuscinosis neuronal 7
Charcot-Marie-Tooth disease dominant intermediate 3
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease, axonal, type 2O
Charcot-Marie-Tooth disease, type 2A2
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type IB
Charcot-Marie-Tooth disease, type IE
Chilblain lupus 2
Child syndrome
Cholestanol storage disease
Choreoathetosis/spasticity, episodic
Christianson syndrome
Chromosome 5p13 duplication syndrome
Chromosome 9q deletion syndrome
Chromosome 16-related alpha-thalassemia/mental retardation syndrome
Chromosome 17p13.3 duplication syndrome
Chromosome 17q11.2 deletion syndrome, 1.4-mb
Chédiak-Higashi syndrome
Citrullinemia type I
Citrullinemia type II
Cleft palate, isolated
Cockayne syndrome type A
Cockayne syndrome, type B
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency, primary, 2
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cognitive impairment with or without cerebellar ataxia
Cohen syndrome
Coloboma of optic disc
Combined deficiency of sialidase AND beta galactosidase
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 15
Congenital aniridia
Congenital cerebellar hypoplasia
Congenital contractural arachnodactyly
Congenital defect of folate absorption
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1P
Congenital disorder of glycosylation type 1Q
Congenital disorder of glycosylation type 2C
Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type 2k
Congenital hyperammonemia, type I
Congenital hypomyelinating neuropathy
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
Congenital muscular hypertrophy-cerebral syndrome
Congenital ocular coloboma
Congenital sensory neuropathy with selective loss of small myelinated fibers
Conotruncal heart malformations
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 5
Corpus callosum agenesis
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
Corpus callosum, partial agenesis of, X-linked
Cortical dysplasia, complex, with other brain malformations
Cortical dysplasia-focal epilepsy syndrome
Costello syndrome
Cowden disease 3
Cowden disease 4
Cowden disease 5
Cowden disease 6
Cowden syndrome
Cowden-like syndrome
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Craniofrontonasal dysplasia
Craniosynostosis 1
Creatine deficiency, X-linked
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
Cushing's syndrome
Cutaneous malignant melanoma 1
Cutis Gyrata syndrome of Beare and Stevenson
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Cutis laxa, X-linked
Cutis laxa, autosomal dominant
Cutis laxa, autosomal dominant 2
Cutis laxa-corneal clouding-oligophrenia syndrome
D-2-alpha hydroxyglutaric aciduria
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Danon disease
De Sanctis-Cacchione syndrome
Deafness, autosomal dominant 11
Deafness, autosomal recessive 2
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of beta-ureidopropionase
Deficiency of cytochrome-b5 reductase
Deficiency of ferroxidase
Deficiency of glycerate kinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of pyrroline-5-carboxylate reductase
Dejerine-Sottas disease
Desbuquois syndrome
Desmosterolosis
DiGeorge sequence
Diabetes mellitus type 2
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1X
Dilated cardiomyopathy 3B
Distal spinal muscular atrophy, X-linked 3
Duchenne muscular dystrophy
Dysequilibrium syndrome
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita, autosomal dominant, 3
Dyskeratosis congenita, autosomal recessive 2
Dystonia 18
Dystonia 5, Dopa-responsive type
Dystransthyretinemic euthyroidal hyperthyroxinemia
Early infantile epileptic encephalopathy 13
Early infantile epileptic encephalopathy 15
Early infantile epileptic encephalopathy 2
Early infantile epileptic encephalopathy 4
Early infantile epileptic encephalopathy 5
Early infantile epileptic encephalopathy 7
Early infantile epileptic encephalopathy 9
Ectopia lentis, isolated, autosomal dominant
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Ehlers-Danlos syndrome, procollagen proteinase deficient
Encephalopathy, neonatal severe, due to MECP2 mutations
Endometrial carcinoma
Enlarged vestibular aqueduct syndrome
Epidermal nevus
Epidermal nevus syndrome
Epilepsy, childhood absence 1
Epilepsy, childhood absence 2
Epilepsy, familial temporal lobe, 5
Epilepsy, idiopathic generalized, susceptibility to, 12
Epilepsy, nocturnal frontal lobe, type 1
Epilepsy, progressive myoclonic 3
Erythrokeratodermia variabilis 3
Essential hypertension
Exudative vitreoretinopathy 4
FG syndrome 4
FRAXE
Factor V deficiency
Fahr's syndrome
Familial aplasia of the vermis
Familial cancer of breast
Familial exudative vitreoretinopathy
Familial febrile seizures 8
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 3
Familial hypercholesterolemia
Familial infantile myasthenia
Familial renal glucosuria
Fanconi anemia, complementation group D1
Fanconi anemia, complementation group G
Fanconi anemia, complementation group J
Fanconi anemia, complementation group N
Fanconi anemia, complementation group P
Fanconi-Bickel syndrome
Febrile seizures, familial, 1
Febrile seizures, familial, 11
Feingold syndrome
Fibrosis of extraocular muscles, congenital, 1
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Focal cortical dysplasia of Taylor
Focal epilepsy with speech disorder with or without mental retardation
Fragile X syndrome
Fragile X tremor/ataxia syndrome
Frank Ter Haar syndrome
Frontonasal dysplasia 2
Frontotemporal dementia
Frontotemporal dementia, ubiquitin-positive
Fukuyama congenital muscular dystrophy
GRACILE syndrome
Ganglioside sialidase deficiency
Gaucher disease type 3C
Gaucher disease, perinatal lethal
Gaucher's disease, type 1
Geleophysic dysplasia 2
Generalized arterial calcification of infancy 2
Generalized epilepsy with febrile seizures plus, type 1
Generalized epilepsy with febrile seizures plus, type 2
Giant axonal neuropathy
Glioma susceptibility 2
Glioma susceptibility 3
Glucocorticoid deficiency 2
Glucose transporter type 1 deficiency syndrome
Glutamine deficiency, congenital
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
Gluthathione synthetase deficiency
Glycerol release during exercise, defective
Glycogen storage disease IXc
Glycogen storage disease type III
Glycogen storage disease type IXa1
Glycogen storage disease, type IV
Glycogen storage disease, type VI
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Growth hormone insensitivity with immunodeficiency
Growth retardation, developmental delay, coarse facies, and early death
Hamartoma of hypothalamus
Hemophagocytic lymphohistiocytosis, familial, 4
Hepatic methionine adenosyltransferase deficiency
Hepatocellular carcinoma
Hereditary coproporphyria
Hereditary diffuse gastric cancer
Hereditary liability to pressure palsies
Hermansky Pudlak syndrome 2
Histiocytic medullary reticulosis
Holoprosencephaly 4
Holoprosencephaly 5
Homocysteinemia due to MTHFR deficiency
Homocystinuria due to CBS deficiency
Hydrocephalus
Hydrolethalus syndrome 2
Hypercholesterolemia, autosomal dominant, type B
Hyperekplexia hereditary
Hyperinsulinemic hypoglycemia familial 3
Hyperinsulinemic hypoglycemia familial 5
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphosphatasia with mental retardation syndrome 1
Hyperphosphatasia with mental retardation syndrome 2
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility
Hyperthyroidism, familial gestational
Hyperthyroidism, nonautoimmune
Hypertrophy of the breast, juvenile
Hypochondroplasia
Hypoglycemia with deficiency of glycogen synthetase in the liver
Hypogonadotropic hypogonadism
Hypomyelination and Congenital Cataract
Hypomyelination, global cerebral
Hypoparathyroidism retardation dysmorphism syndrome
Hypothyroidism, congenital, nongoitrous, 1
I cell disease
IFAP syndrome with or without BRESHECK syndrome
Ichthyosis, spastic quadriplegia, and mental retardation
Idiopathic fibrosing alveolitis, chronic form
Idiopathic generalized epilepsy
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Infantile neuroaxonal dystrophy
Insulin-like growth factor 1 resistance to
Insulin-like growth factor I deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Interfrontal craniofaciosynostosis
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Intrinsic factor and r binder, combined congenital deficiency of
Irido-corneo-trabecular dysgenesis
Ischemic stroke
Islet cell hyperplasia
Jackson-Weiss syndrome
Joubert syndrome 10
Joubert syndrome 15
Joubert syndrome 2
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Juvenile myelomonocytic leukemia
Juvenile neuronal ceroid lipofuscinosis
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Kahrizi syndrome
Kallmann syndrome 2
Kallmann syndrome 5
Kanzaki disease
Kenny-Caffey syndrome type 1
Keratitis, hereditary
Keratosis pilaris decalvans
LEOPARD syndrome 1
Laron-type isolated somatotropin defect
Leber congenital amaurosis 10
Legius syndrome
Leigh's disease
Leprechaunism syndrome
Leukodystrophy, hypomyelinating, 4
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Levy-Hollister syndrome
Lewy body dementia
Lig4 syndrome
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Lissencephaly 1
Lissencephaly 3
Lung cancer
Lymphangiomyomatosis
Lysinuric protein intolerance
MASS syndrome
MECP2 duplication syndrome
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
Macrocephaly
Macrocephaly/autism syndrome
Major depressive disorder
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of urinary bladder
Maple syrup urine disease
Marfan's syndrome
Marinesco-Sjögren syndrome
Maturity onset diabetes mellitus in young
Maturity-onset diabetes of the young, type 2
McCune-Albright syndrome
McKusick Kaufman syndrome
Meckel syndrome type 1
Meckel syndrome type 2
Meckel syndrome type 3
Meckel syndrome type 4
Meckel syndrome type 5
Meckel syndrome, type 6
Medulloblastoma
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 2a
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
Meier-Gorlin syndrome
Meningioma, familial
Menkes kinky-hair syndrome
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation with language impairment and autistic features
Mental retardation, X-linked 14
Mental retardation, X-linked 19
Mental retardation, X-linked 72
Mental retardation, X-linked 93
Mental retardation, X-linked 96
Mental retardation, X-linked, nonspecific
Mental retardation, X-linked, syndromic 10
Mental retardation, X-linked, syndromic 13
Mental retardation, X-linked, syndromic, Hedera type
Mental retardation, X-linked, syndromic, fried type
Mental retardation, X-linked, syndromic, raymond type
Mental retardation, X-linked, syndromic, turner type
Mental retardation, X-linked, syndromic, wu type
Mental retardation, anterior maxillary protrusion, and strabismus
Mental retardation, autosomal dominant 1
Mental retardation, autosomal dominant 10
Mental retardation, autosomal dominant 12
Mental retardation, autosomal dominant 13
Mental retardation, autosomal dominant 14
Mental retardation, autosomal dominant 15
Mental retardation, autosomal dominant 16
Mental retardation, autosomal dominant 19
Mental retardation, autosomal dominant 3
Mental retardation, autosomal dominant 4
Mental retardation, autosomal dominant 5
Mental retardation, autosomal dominant 6
Mental retardation, autosomal dominant 7
Mental retardation, autosomal dominant 8
Mental retardation, autosomal dominant 9
Mental retardation, autosomal recessive 1
Mental retardation, autosomal recessive 12
Mental retardation, autosomal recessive 13
Mental retardation, autosomal recessive 14
Mental retardation, autosomal recessive 15
Mental retardation, autosomal recessive 18
Mental retardation, autosomal recessive 2
Mental retardation, autosomal recessive 3
Mental retardation, autosomal recessive 34
Mental retardation, autosomal recessive 5
Mental retardation, autosomal recessive 6
Mental retardation, autosomal recessive 7
Mental retardation, fra12a type
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Mental retardation-hypotonic facies syndrome X-linked, 1
Merosin deficient congenital muscular dystrophy
Metachondromatosis
Methylmalonic acidemia with homocystinuria cblD
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephaly with mental retardation and digital anomalies
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, postnatal progressive, with seizures and brain atrophy
Microphthalmia syndromic 3
Microphthalmia syndromic 9
Migraine
Miller Dieker syndrome
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Mitochondrial complex I deficiency
Mitochondrial complex III deficiency
Mitochondrial myopathy
Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome 2
Mowat-Wilson syndrome
Mucolipidosis III Gamma
Mucopolysaccharidosis type VII
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Muenke syndrome
Multiple fibrofolliculomas
Multiple myeloma
Muscle eye brain disease
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, fast-channel
Myasthenic syndrome, slow-channel congenital
Myoclonic epilepsy, familial infantile
Myopathy, centronuclear, 1
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NSDHL-Related Disorders
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neoplasm of ovary
Neoplasm of stomach
Nephrogenic diabetes insipidus, X-linked
Nephrogenic diabetes insipidus, autosomal
Nephrogenic syndrome of inappropriate antidiuresis
Nephronophthisis 11
Nephronophthisis-like nephropathy 1
Neural tube defect
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 2b
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurohypophyseal diabetes insipidus
Neuronal ceroid lipofuscinosis
Neuropathy hereditary sensory and autonomic type 1
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 7
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Obsessive-compulsive disorder
Oral-facial-digital syndrome
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, recessive perinatal lethal
Osteoglophonic dysplasia
Osteopathia striata with cranial sclerosis
Osteopetrosis autosomal dominant type 1
Osteoporosis
Osteoporosis with pseudoglioma
Pallister-Hall syndrome
Pancreatic cancer 2
Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
Panhypopituitarism X-linked
Papillary thyroid carcinoma
Parietal foramina 2
Parkinson disease 14
Parkinson disease 9
Parkinson's disease
Parkinson-dementia syndrome
Partington X-linked mental retardation syndrome
Pelger-Huët anomaly
Pelizaeus-Merzbacher disease
Pena-Shokeir syndrome type I
Pendred's syndrome
Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 9B
Persistent hyperinsulinemic hypoglycemia of infancy
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylketonuria
Phosphoglycerate kinase 1 deficiency
Phytanic acid storage disease
Pick's disease
Pigmented nodular adrenocortical disease, primary, 1
Pili torti-deafness syndrome
Pilomatrixoma
Pineal hyperplasia AND diabetes mellitus syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome 2
Pituitary hormone deficiency, combined 1
Pituitary hormone deficiency, combined 3
Polyglucosan body disease, adult
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria, asymmetric
Polymicrogyria, bilateral frontoparietal
Postaxial polydactyly type A1
Potocki-Shaffer syndrome
Preaxial polydactyly 4
Premature chromatid separation trait
Premature ovarian failure 1
Primary autosomal recessive microcephaly 1
Primary autosomal recessive microcephaly 2
Primary autosomal recessive microcephaly 5
Progressive myoclonus epilepsy with ataxia
Progressive osseous heteroplasia
Progressive supranuclear ophthalmoplegia
Proteus syndrome
Proud Levine Carpenter syndrome
Pseudo-Hurler polydystrophy
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudoneonatal adrenoleukodystrophy
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Pyruvate dehydrogenase e3-binding protein deficiency
Recurrent abortion
Reifenstein syndrome
Renal dysplasia
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Renal-hepatic-pancreatic dysplasia
Renpenning syndrome 1
Retinitis pigmentosa-deafness syndrome
Rett syndrome, congenital variant
Rett's disorder
Revesz syndrome
Reynolds syndrome
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Robinow Sorauf syndrome
Roussy-Lévy syndrome
Russell-Silver syndrome
Saethre-Chotzen syndrome
Sandhoff disease
Scaphocephaly, maxillary retrusion, and mental retardation
Schindler disease, type 1
Schizophrenia
Schizophrenia 15
Schizophrenia 17
Schwannomatosis
Scoliosis, idiopathic 3
SeSAME syndrome
Seckel syndrome
Seckel syndrome 2
Segawa syndrome, autosomal recessive
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe congenital neutropenia 3, autosomal recessive
Severe congenital neutropenia 4, autosomal recessive
Severe myoclonic epilepsy in infancy
Short stature, idiopathic, autosomal
Shprintzen syndrome
Shprintzen-Goldberg syndrome
Sialidosis, type II
Siderius X-linked mental retardation syndrome
Simpson-Golabi-Behmel syndrome, type 2
Sitosterolemia
Skeletal defects, genital hypoplasia, and mental retardation
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Snyder Robinson syndrome
Somatotroph adenoma
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 13
Spastic paraplegia 15
Spastic paraplegia 2
Spastic paraplegia 3
Spastic paraplegia 30, autosomal recessive
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Spinocerebellar ataxia 27
Spinocerebellar ataxia, autosomal recessive 11
Spinocerebellar ataxia, autosomal recessive 13
Squamous cell carcinoma of the head and neck
Stargardt Disease 3
Stiff skin syndrome
Stocco dos Santos syndrome
Stroke 1
Stuttering, familial persistent 2
Subacute neuronopathic Gaucher's disease
Symmetrical dyschromatosis of extremities
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
Tay-Sachs disease, variant AB
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thrombophilia
Thrombophilia due to activated protein C resistance
Thyroid cancer, follicular
Thyroid dyshormonogenesis 1
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hormone resistance, generalized, autosomal recessive
Thyroid hormone resistance, selective pituitary
Tobacco addiction, susceptibility to
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 3
Trichohepatoenteric syndrome
Trichothiodystrophy photosensitive
Trigeminal neuralgia
Tuberous sclerosis 1
Tuberous sclerosis 2
UDPglucose-4-epimerase deficiency
UV-sensitive syndrome
UV-sensitive syndrome 2
Urocanate hydratase deficiency
Usher syndrome, type 1
Vacterl association with hydrocephalus
Van Buchem disease type 2
Variegate porphyria
Ventricular septal defect 3
Vertical talus, congenital
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
Walker-Warburg congenital muscular dystrophy
Weill-Marchesani syndrome 2
Werner syndrome
West syndrome
Wilms' tumor
Wilson-Turner X-linked mental retardation syndrome
Wolff-Parkinson-White pattern
Worth disease
X inactivation, familial skewed, 1
X inactivation, familial skewed, 2
X-Linked Mental Retardation 41
X-Linked Mental Retardation 88
X-Linked mental retardation 90
X-linked familial exudative vitreoretinopathy
X-linked hydrocephalus syndrome
X-linked hypospadias 1
X-linked lissencephaly
X-linked lissencephaly 2
X-linked mental retardation 17
X-linked mental retardation 21
X-linked mental retardation 30
X-linked mental retardation 46
X-linked mental retardation 58
X-linked mental retardation 63
X-linked mental retardation 9
X-linked mental retardation 95
X-linked mental retardation with panhypopituitarism
X-linked mental retardation with short stature, hypogonadism and abnormal gait
X-linked mental retardation, syndromic 14
X-linked mental retardation, syndromic, Claes-Jensen type
X-linked mental retardation, with or without seizures, ARX-related
X-linked rolandic epilepsy with mental retardation and speech dyspraxia
X-linked syndromic mental retardation, Nascimento type
Xeroderma pigmentosum, complementation group b
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group G
Zunich neuroectodermal syndrome
ABCC6 (16p13.11);
ABCD1 (Xq28);
ABCG5 (2p21);
ACAT1 (11q22.3);
ACOX1 (17q25.1)
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Conditions
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Total conditions: 749
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
