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	Genetic Conditions: Nervous System The brain and nervous system form a complex network of signals that carry information (in the form of electrical impulses) to and from the body. Several disorders that directly affect the nervous system have a genetic component. - A - A-alphalipoprotein Neuropathy see Tangier disease A-T see Ataxia-telangiectasia AAA see Triple A syndrome AADC deficiency see Aromatic l-amino acid decarboxylase deficiency AASA dehydrogenase deficiency see Pyridoxine-dependent epilepsy AB variant see GM2-gangliosidosis, AB variant Abetalipoproteinemia ACADS deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency Acanthocytosis see Abetalipoproteinemia Acanthocytosis with neurologic disorder see Chorea-acanthocytosis ACCPN see Andermann syndrome Aceruloplasminemia Achalasia-addisonian syndrome see Triple A syndrome Achalasia-Addisonianism-Alacrima syndrome see Triple A syndrome Achalasia-alacrima syndrome see Triple A syndrome Activator deficiency/GM2 gangliosidosis see GM2-gangliosidosis, AB variant Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant ACY2 deficiency see Canavan disease AD see Alzheimer disease ADLTE see Autosomal dominant partial epilepsy with auditory features ADNFLE see Autosomal dominant nocturnal frontal lobe epilepsy ADPEAF see Autosomal dominant partial epilepsy with auditory features Adrenoleukodystrophy see X-linked adrenoleukodystrophy Adrenomyeloneuropathy see X-linked adrenoleukodystrophy Adult polyglucosan body disease Adult Refsum disease see Refsum disease AGA deficiency see Aspartylglucosaminuria Agenesis of corpus callosum with neuronopathy see Andermann syndrome Agenesis of corpus callosum with peripheral neuropathy see Andermann syndrome Agenesis of corpus callosum with polyneuropathy see Andermann syndrome Alacrima-achalasia-adrenal insufficiency neurologic disorder see Triple A syndrome Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome Alcohol-responsive dystonia see Myoclonus-dystonia ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy Alexander disease Allan-Herndon-Dudley syndrome Allan-Herndon syndrome see Allan-Herndon-Dudley syndrome Allgrove syndrome see Triple A syndrome Alpha-fucosidase deficiency see Fucosidosis Alpha-galactosidase A deficiency see Fabry disease Alpha-galactosidase B deficiency see Schindler disease Alpha-galNAc deficiency, Schindler type see Schindler disease Alpha high density lipoprotein deficiency disease see Tangier disease Alpha-L-iduronidase deficiency see Mucopolysaccharidosis type I Alpha-N-acetylgalactosaminidase deficiency see Schindler disease Alpha-NAGA deficiency see Schindler disease Alpha thalassemia X-linked mental retardation syndrome ALS see Amyotrophic lateral sclerosis ALX see Alexander disease Alzheimer disease Aminoacylase 2 deficiency see Canavan disease Amish lethal microcephaly Amyotrophic lateral sclerosis Amyotrophic Neuralgia see hereditary neuralgic amyotrophy Analphalipoproteinemia see Tangier disease Andermann syndrome Anderson-Fabry disease see Fabry disease Angelman syndrome Angiokeratoma corporis diffusum see Fabry disease Angiokeratoma corporis diffusum-glycopeptiduria see Schindler disease Angiokeratoma diffuse see Fabry disease Angiomatosis retinae see von Hippel-Lindau syndrome Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency Antley-Bixler syndrome with disordered steroidogenesis see Cytochrome P450 oxidoreductase deficiency APBD see adult polyglucosan body disease Apolipoprotein B deficiency see Abetalipoproteinemia Arakawa syndrome 1 see Glutamate formiminotransferase deficiency ARD see Refsum disease Aromatic l-amino acid decarboxylase deficiency ARSA deficiency see metachromatic leukodystrophy ARSACS see Autosomal recessive spastic ataxia of Charlevoix-Saguenay Arts syndrome Arylsulfatase A deficiency disease see Metachromatic leukodystrophy AS see Angelman syndrome Asp deficiency see Canavan disease Aspa deficiency see Canavan disease Aspartoacylase deficiency see Canavan disease Aspartylglucosamidase deficiency see Aspartylglucosaminuria Aspartylglucosaminidase deficiency see Aspartylglucosaminuria Aspartylglucosaminuria Ataxia-deafness-optic atrophy, lethal see Arts syndrome Ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome Ataxia-telangiectasia Ataxia with lactic acidosis, type II see Pyruvate carboxylase deficiency Ataxia with oculomotor apraxia Ataxia with vitamin E deficiency ATM see Ataxia-telangiectasia ATR-X syndrome see Alpha thalassemia X-linked mental retardation syndrome ATRX syndrome see Alpha thalassemia X-linked mental retardation syndrome Autism-dementia-ataxia-loss of purposeful hand use syndrome see Rett syndrome Autosomal dominant hereditary spastic paraplegia see Spastic paraplegia type 4 Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome Autosomal dominant partial epilepsy with auditory features Autosomal dominant spastic paraplegia 8 see Spastic paraplegia type 8 Autosomal recessive cerebellar ataxia with mental retardation see VLDLR-associated cerebellar hypoplasia Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification see VLDLR-associated cerebellar hypoplasia Autosomal recessive hereditary spastic paraplegia see Spastic paraplegia type 7; Troyer syndrome Autosomal recessive infantile parkinsonism see Tyrosine hydroxylase deficiency Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic paraplegia complicated with thin corpus callosum see Spastic paraplegia type 11 Autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum see Spastic paraplegia type 11 AVED see Ataxia with vitamin E deficiency AxD see Alexander disease - B - B variant GM2 gangliosidosis see Tay-Sachs disease Baltic myoclonic epilepsy see Unverricht-Lundborg disease Baltic myoclonus see Unverricht-Lundborg disease BANF see Neurofibromatosis type 2 Bartholin-Patau syndrome see Trisomy 13 Basal ganglia disease, adult-onset see Neuroferritinopathy Bassen-Kornzweig syndrome see Abetalipoproteinemia Batten disease see Juvenile Batten disease Batten-Mayou disease see Juvenile Batten disease Batten-Spielmeyer-Vogt disease see Juvenile Batten disease BCKD deficiency see Maple syrup urine disease BDLS see Cornelia de Lange syndrome Benign essential tremor see Essential tremor 17β-hydroxysteroid dehydrogenase type 10 deficiency Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease Betalipoprotein deficiency disease see Abetalipoproteinemia Beuren syndrome see Williams syndrome BH4 Deficiency see Tetrahydrobiopterin deficiency Bilateral acoustic Neurofibromatosis see Neurofibromatosis type 2 BIOT see Biotinidase deficiency Biotinidase deficiency Bloch-Siemens-Sulzberger syndrome see incontinentia pigmenti Bloch-Siemens syndrome see Incontinentia pigmenti Bloch-Sulzberger syndrome see Incontinentia pigmenti Bloom syndrome Bourneville disease see Tuberous sclerosis complex Bourneville phakomatosis see Tuberous sclerosis complex Brachial neuralgia see Hereditary neuralgic amyotrophy Brachial neuritis see Hereditary neuralgic amyotrophy Brachial Plexus Neuritis see Hereditary neuralgic amyotrophy Brachmann-De Lange syndrome see Cornelia de Lange syndrome Brachydactyly-mental retardation syndrome see 2q37 deletion syndrome Branched-chain alpha-keto acid dehydrogenase deficiency see Maple syrup urine disease Branched-chain ketoaciduria see Maple syrup urine disease Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome BTD deficiency see Biotinidase deficiency Bulbospinal muscular atrophy, X-linked see Spinal and bulbar muscular atrophy - C - CACH syndrome see leukoencephalopathy with vanishing white matter CACT deficiency see carnitine-acylcarnitine translocase deficiency CADASIL see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Camurati-Engelmann disease Canavan disease Carboxylase deficiency, multiple, late-onset see Biotinidase deficiency Cardio-facio-cutaneous syndrome see Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Carnitine-acylcarnitine translocase deficiency Cat cry syndrome see Cri-du-chat syndrome CATCH22 see 22q11.2 deletion syndrome CAVE complex see Pallister-Hall syndrome Cayler cardiofacial syndrome see 22q11.2 deletion syndrome CCHS see Congenital central hypoventilation syndrome CDLS see Cornelia de Lange syndrome CED see Camurati-Engelmann disease Central nervous system cavernous hemangioma see Cerebral cavernous malformation Central neurofibromatosis see Neurofibromatosis type 2 Cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome Ceramide trihexosidase deficiency see Fabry disease Cerebellar disorder, nonprogressive, with mental retardation see VLDLR-associated cerebellar hypoplasia Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion see VLDLR-associated cerebellar hypoplasia Cerebellar hypoplasia, VLDLR-associated see VLDLR-associated cerebellar hypoplasia Cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral cavernous malformation Cerebral gigantism see Sotos syndrome Cerebral sclerosis see Tuberous sclerosis complex Cerebral sclerosis, diffuse, metachromatic form see Metachromatic leukodystrophy Cerebroacrovisceral early lethality complex see Pallister-Hall syndrome Cerebroatrophic hyperammonemia see Rett syndrome Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy Cerebrooculorenal syndrome see Lowe syndrome Cerebroside lipidosis syndrome see Gaucher disease Cerebroside sulphatase deficiency disease see Metachromatic leukodystrophy Cerebrotendinous xanthomatosis CFC syndrome see Cardiofaciocutaneous syndrome CHAC see Chorea-acanthocytosis Charcot disease see Amyotrophic lateral sclerosis Charcot-Marie-tooth disease CHARGE syndrome Charlevoix disease see Andermann syndrome Charlevoix-Saguenay spastic ataxia see Autosomal recessive spastic ataxia of Charlevoix-Saguenay Childhood ataxia with central nervous system hypomyelination see Leukoencephalopathy with vanishing white matter CHMRQ1 see VLDLR-associated cerebellar hypoplasia Cholesterol thesaurismosis see Tangier disease Chorea-acanthocytosis Choreoacanthocytosis see Chorea-acanthocytosis Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome Chromosome 1p36 deletion syndrome see 1p36 deletion syndrome Chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome Chromosome 4p monosomy see Wolf-Hirschhorn syndrome Chromosome 5p- syndrome see Cri-du-chat syndrome Chromosome 17p deletion syndrome see Smith-Magenis syndrome Chromosome 22q11.2 duplication syndrome see 22q11.2 duplication Chromosome 22q11.2 microduplication syndrome see 22q11.2 duplication Chronic infantile neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease Chronic neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease CINCA see Neonatal onset multisystem inflammatory disease CIT see Citrullinemia Citrullinemia Classic galactosemia see Galactosemia Classic juvenile NCL see Juvenile Batten disease Classic lissencephaly see X-linked lissencephaly Classic Refsum disease see Refsum disease Classical lissencephaly syndrome see Miller-Dieker syndrome Classical Niemann-Pick disease see Niemann-Pick disease CLN3-related neuronal ceroid-lipofuscinosis see Juvenile Batten disease CLS see Coffin-Lowry syndrome CMT see Charcot-Marie-tooth disease Cockayne-Pelizaeus-Merzbacher disease see Pelizaeus-Merzbacher disease Cockayne syndrome Coffin-Lowry syndrome Cohen syndrome Combined partial deficiency of 17-hydroxylase and 21-hydroxylase see Cytochrome P450 oxidoreductase deficiency Complete HPRT deficiency see Lesch-Nyhan syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome Complete trisomy 13 syndrome see Trisomy 13 Complete trisomy 18 syndrome see Trisomy 18 Compression neuropathy see Hereditary neuropathy with liability to pressure palsies Congenital betalipoprotein deficiency syndrome see Abetalipoproteinemia Congenital central hypoventilation syndrome Congenital folate malabsorption see hereditary folate malabsorption Congenital pontocerebellar hypoplasia see Pontocerebellar hypoplasia Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome Copper storage disease see Wilson disease Copper transport disease see Menkes syndrome Cornelia de Lange syndrome CRASH syndrome see L1 syndrome CRD see Refsum disease Creatine deficiency, cerebral see Guanidinoacetate methyltransferase deficiency Creatine deficiency syndrome due to GAMT deficiency see Guanidinoacetate methyltransferase deficiency Cree leukoencephalopathy see Leukoencephalopathy with vanishing white matter Cri-du-chat syndrome Cross-McKusick syndrome see Troyer syndrome CS see Cockayne syndrome CTX see Cerebrotendinous xanthomatosis CVS see Cyclic vomiting syndrome Cyclic vomiting syndrome Cytochrome P450 oxidoreductase deficiency - D - DAF syndrome see Niemann-Pick disease DAT see Alzheimer disease DBS see Donnai-Barrow syndrome DDC deficiency see Aromatic l-amino acid decarboxylase deficiency De Lange syndrome see Cornelia de Lange syndrome De Vivo disease see GLUT1 deficiency syndrome 3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency Deficiency disease, phenylalanine hydroxylase see Phenylketonuria Deficiency of glutathione synthase see Glutathione synthetase deficiency Deficiency of glutathione synthetase see Glutathione synthetase deficiency Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome Del(4p) syndrome see Wolf-Hirschhorn syndrome 1p36 deletion syndrome 2q37 deletion syndrome 4p Deletion syndrome see Wolf-Hirschhorn syndrome 5p deletion syndrome see Cri-du-chat syndrome 11q deletion disorder see Jacobsen syndrome 11q deletion syndrome see Jacobsen syndrome 11q23 deletion disorder see Jacobsen syndrome 16p11.2 deletion syndrome Deletion 17p syndrome see Smith-Magenis syndrome 22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome 22q13.3 deletion syndrome 22q13 deletion syndrome see 22q13.3 deletion syndrome Demyelinogenic leukodystrophy see Alexander disease Dentatorubral-pallidoluysian atrophy Deoxyguanosine kinase deficiency Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome DES-VLDLR see VLDLR-associated cerebellar hypoplasia DGSX see Simpson-Golabi-Behmel syndrome DGUOK-related mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency DHMN-V see Distal hereditary motor neuropathy, type V Diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease Diaphyseal hyperostosis see Camurati-Engelmann disease Diffuse globoid body sclerosis see Krabbe disease DiGeorge syndrome see 22q11.2 deletion syndrome Distal hereditary motor neuropathy, type II Distal hereditary motor neuropathy, type V Distal monosomy 1p36 see 1p36 deletion syndrome Donnai-Barrow syndrome Dopa decarboxylase deficiency see Aromatic l-amino acid decarboxylase deficiency Dopamine beta-hydroxylase deficiency Down syndrome DRPLA see Dentatorubral-pallidoluysian atrophy DSMAV see Distal hereditary motor neuropathy, type V 22q11.2 duplication Dwarf, thanatophoric see Thanatophoric dysplasia Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome Dysequilibrium syndrome-VLDLR see VLDLR-associated cerebellar hypoplasia Dysmyelinogenic leukodystrophy see Alexander disease Dysplasia linguofacialis see oral-facial-digital syndrome Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism Dystonia musculorum deformans see X-linked dystonia-parkinsonism Dystonia musculorum deformans 1 see Early-onset primary dystonia Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism Dystrophia myotonica see myotonic dystrophy DYT1 see Early-onset primary dystonia DYT3 see X-linked dystonia-parkinsonism DYT11 see Myoclonus-dystonia DYT12 see Rapid-onset dystonia parkinsonism - E - EA see Episodic ataxia EAOH see Ataxia with oculomotor apraxia Early-onset ataxia with ocular motor apraxia and hypoalbuminemia see Ataxia with oculomotor apraxia Early-onset biotin-responsive multiple carboxylase deficiency see Holocarboxylase synthetase deficiency Early-onset combined carboxylase deficiency see Holocarboxylase synthetase deficiency Early-onset primary dystonia Edwards syndrome see Trisomy 18 Elfin facies syndrome see Williams syndrome Elfin facies with hypercalcemia see Williams syndrome Emanuel syndrome EME see Ethylmalonic encephalopathy Encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome Encephalopathy, petechiae, and ethylmalonic aciduria see Ethylmalonic encephalopathy Engelmann's disease see Camurati-Engelmann disease Entrapment neuropathy see Hereditary neuropathy with liability to pressure palsies EPD see Pyridoxine-dependent epilepsy EPEMA syndrome see Ethylmalonic encephalopathy Epilepsy, partial, with auditory features see Autosomal dominant partial epilepsy with auditory features Epilepsy, progressive myoclonic, Lafora see Lafora progressive myoclonus epilepsy Epilepsy, pyridoxine-dependent see Pyridoxine-dependent epilepsy Epiloia see Tuberous sclerosis complex Epimerase deficiency galactosemia see Galactosemia Episodic ataxia EPM1 see Unverricht-Lundborg disease Erythermalgia see Erythromelalgia Erythromelalgia Essential tremor Ethylmalonic encephalopathy ETL1 see Autosomal dominant partial epilepsy with auditory features - F - FA see Friedreich ataxia Fabry disease Faciooculoacousticorenal syndrome see Donnai-Barrow syndrome Familial acoustic neuromas see Neurofibromatosis type 2 Familial Alzheimer disease (FAD) see Alzheimer disease Familial apoceruloplasmin deficiency see Aceruloplasminemia Familial brachial plexus neuritis see Hereditary neuralgic amyotrophy Familial cavernous hemangioma see Cerebral cavernous malformation Familial cavernous malformation see Cerebral cavernous malformation Familial cerebral cavernous angioma see Cerebral cavernous malformation Familial cerebral cavernous malformation see Cerebral cavernous malformation Familial dysautonomia Familial encephalopathy with neuroserpin inclusion bodies Familial hemiplegic migraine Familial high density lipoprotein deficiency disease see Tangier disease Familial hypoalphalipoproteinemia see Tangier disease Familial hypobetalipoproteinemia see Abetalipoproteinemia Familial isolated vitamin E deficiency see Ataxia with vitamin E deficiency Familial nodular heterotopia see Periventricular heterotopia Familial paroxysmal nonkinesigenic dyskinesia Familial pressure sensitive neuropathy see Hereditary neuropathy with liability to pressure palsies Familial tremor see Essential tremor Familial vascular leukoencephalopathy see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy FCMD see Fukuyama congenital muscular dystrophy FD see Familial dysautonomia FENIB see Familial encephalopathy with neuroserpin inclusion bodies Ferritin-related neurodegeneration see Neuroferritinopathy FG syndrome Fibrinoid degeneration of astrocytes see Alexander disease FIGLU-uria see Glutamate formiminotransferase deficiency FIVE see Ataxia with vitamin E deficiency FOAR syndrome see Donnai-Barrow syndrome Folic acid transport defect see Hereditary folate malabsorption Folling disease see Phenylketonuria Formiminoglutamic aciduria see Glutamate formiminotransferase deficiency Formiminotransferase deficiency see Glutamate formiminotransferase deficiency Fra(X) syndrome see Fragile X syndrome Fragile X syndrome FRAXA syndrome see Fragile X syndrome FRDA see Friedreich ataxia Free sialic acid storage disease see Sialic acid storage disease Friedreich ataxia Friedreich ataxia phenotype with selective vitamin E deficiency see Ataxia with vitamin E deficiency Friedreich-like ataxia see Ataxia with vitamin E deficiency Fucosidase deficiency see Fucosidosis Fucosidosis Fukuhara disease see Myoclonic epilepsy with ragged-red fibers Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarate hydratase deficiency see Fumarase deficiency Fumaric aciduria see Fumarase deficiency FXS see Fragile X syndrome - G - GA I see Glutaric acidemia type I Galactokinase deficiency disease see Galactosemia Galactose-1-phosphate uridyl-transferase deficiency disease see Galactosemia Galactose epimerase deficiency see Galactosemia Galactosemia Galactosylceramidase deficiency disease see Krabbe disease Galactosylceramide lipidosis see Krabbe disease Galactosylcerebrosidase deficiency see Krabbe disease Galactosylsphingosine lipidosis see Krabbe disease GALB deficiency see Schindler disease GALC deficiency see Krabbe disease GALT Deficiency see Galactosemia Gamma-hydroxybutyric acidemia see Succinic semialdehyde dehydrogenase deficiency Gamma-hydroxybutyric aciduria see Succinic semialdehyde dehydrogenase deficiency GAMT deficiency see Guanidinoacetate methyltransferase deficiency GAN see Giant axonal neuropathy Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome Gaucher disease GCL see Krabbe disease GD see Gaucher disease Giant axonal neuropathy GLA deficiency see Fabry disease GLD see Krabbe disease Glucocerebrosidase deficiency see Gaucher disease Glucocerebrosidosis see Gaucher disease Glucose transport defect, blood-brain barrier see GLUT1 deficiency syndrome Glucose transporter protein syndrome see GLUT1 deficiency syndrome Glucose transporter type 1 deficiency syndrome see GLUT1 deficiency syndrome Glucosyl cerebroside lipidosis see Gaucher disease Glucosylceramidase deficiency see Gaucher disease Glucosylceramide beta-glucosidase deficiency see Gaucher disease Glucosylceramide lipidosis see Gaucher disease GLUT1 deficiency syndrome Glutamate formiminotransferase deficiency Glutaric acidemia type I Glutaryl-CoA dehydrogenase deficiency see Glutaric acidemia type I Glutathione synthetase deficiency Glycine encephalopathy Glycosylasparaginase deficiency see Aspartylglucosaminuria GM2 Activator deficiency disease see GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant GM2 gangliosidosis, type 1 see Tay-Sachs disease GM2 gangliosidosis, type 2 see Sandhoff disease GM2 Gangliosidosis, Type II see Sandhoff disease Gout, PRPS-related see Phosphoribosylpyrophosphate synthetase superactivity Greenfield disease see metachromatic leukodystrophy Greig cephalopolysyndactyly syndrome GTPS see GLUT1 deficiency syndrome Guanidinoacetate methyltransferase deficiency - H - 3HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency Haddad syndrome see Congenital central hypoventilation syndrome Hall-Hittner syndrome see CHARGE syndrome Hall-Pallister syndrome see Pallister-Hall syndrome Haw River syndrome see Dentatorubral-pallidoluysian atrophy HCC see Hypomyelination and congenital cataract HDL lipoprotein deficiency disease see Tangier disease Hemiplegic migraine, familial see Familial hemiplegic migraine Hemiplegic-ophthalmoplegic migraine see familial hemiplegic migraine Hepatocerebral mitochondrial DNA depletion syndrome see Deoxyguanosine kinase deficiency Hepatolenticular degeneration syndrome see Wilson disease Hereditary Autosomal Dominant Spastic Paraplegia see Spastic paraplegia type 3A; Spastic paraplegia type 4 Hereditary ceruloplasmin deficiency see Aceruloplasminemia Hereditary dystopic lipidosis see Fabry disease Hereditary essential myoclonus see Myoclonus-dystonia Hereditary essential tremor see Essential tremor Hereditary ferritinopathy see Neuroferritinopathy Hereditary folate malabsorption Hereditary motor and sensory neuropathy see Charcot-Marie-tooth disease Hereditary motor and sensory neuropathy Type IV see Refsum disease Hereditary motor and sensory neuropathy with agenesis of the corpus callosum see Andermann syndrome Hereditary motor neuronopathy see Spinal muscular atrophy Hereditary neuralgic amyotrophy Hereditary neuropathy with liability to pressure palsies Hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome Hereditary sensory neuropathy type 1 Hereditary spastic paraplegia Hereditary spastic paraplegia 8 see Spastic paraplegia type 8 Hereditary spinal ataxia see Friedreich ataxia Hereditary Spinal Sclerosis see Friedreich ataxia Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2 Heredofamilial neuritis with brachial plexus predilection see Hereditary neuralgic amyotrophy Heredopathia atactica polyneuritiformis see Refsum disease HexA deficiency see Tay-Sachs disease Hexosaminidase A and B deficiency disease see Sandhoff disease Hexosaminidase A deficiency see Tay-Sachs disease Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease 2-HGA see 2-hydroxyglutaric aciduria Hippel-Lindau disease see von Hippel-Lindau syndrome Hirschsprung disease-mental retardation syndrome see Mowat-Wilson syndrome HLCS deficiency see Holocarboxylase synthetase deficiency HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HMN V see Distal hereditary motor neuropathy, type V HMSN see Charcot-Marie-tooth disease HMSN/ACC see Andermann syndrome HMSN IV see Refsum disease HMSN type IV see Refsum disease HNA see hereditary neuralgic amyotrophy HNPP see Hereditary neuropathy with liability to pressure palsies Holocarboxylase synthetase deficiency HSAN see Hereditary sensory neuropathy type 1 HSAN Type III see Familial dysautonomia HSAN3 see Familial dysautonomia HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency HSN I see Hereditary sensory neuropathy type 1 HSN-III see Familial dysautonomia HSN Type I see Hereditary sensory neuropathy type 1 HSN1 see Hereditary sensory neuropathy type 1 HSP-TCC see Spastic paraplegia type 11 Hunter syndrome see Mucopolysaccharidosis type II Huntington disease Huntington disease-like syndrome Hurler-Scheie syndrome see Mucopolysaccharidosis type I Hurler syndrome see Mucopolysaccharidosis type I 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency Hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency 4-hydroxybutyric aciduria see Succinic semialdehyde dehydrogenase deficiency 4-hydroxybutyricaciduria see Succinic semialdehyde dehydrogenase deficiency 2-hydroxyglutaric aciduria Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency Hypercalcemia-supravalvar aortic stenosis see Williams syndrome Hyperglycinemia, Nonketotic see Glycine encephalopathy Hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia Hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia Hyperphenylalaninemia caused by a defect in biopterin metabolism see Tetrahydrobiopterin deficiency Hyperphenylalaninemia, Non-Phenylketonuric see Tetrahydrobiopterin deficiency Hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome Hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome Hypoceruloplasminemia see Aceruloplasminemia Hypocupremia, congenital see Menkes syndrome Hypomyelination and congenital cataract Hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome Hypotonia, obesity, and prominent incisors see Cohen syndrome Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome - I - I2S deficiency see Mucopolysaccharidosis type II IAHSP see Infantile-onset ascending hereditary spastic paralysis IBMPFD see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia IDUA deficiency see Mucopolysaccharidosis type I Iduronate 2-sulfatase deficiency see Mucopolysaccharidosis type II INAD see Infantile neuroaxonal dystrophy Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Incontinentia pigmenti Infantile hypercalcemia see Williams syndrome Infantile leukoencephalopathy and megalencephaly see Megalencephalic leukoencephalopathy with subcortical cysts Infantile Multiple Carboxylase Deficiency see Holocarboxylase synthetase deficiency Infantile neuroaxonal dystrophy Infantile-onset ascending hereditary spastic paralysis Infantile onset multisystem inflammatory disease see Neonatal onset multisystem inflammatory disease Inherited human transmissible spongiform encephalopathies see Prion disease Inherited tendency to pressure palsies see Hereditary neuropathy with liability to pressure palsies Intracerebral cavernous hemangioma see Cerebral cavernous malformation IOMID syndrome see Neonatal onset multisystem inflammatory disease IP see Incontinentia pigmenti Isochromosome 12p syndrome see Pallister-Killian mosaic syndrome - J - Jacobsen syndrome JPLS see Juvenile primary lateral sclerosis Juvenile Batten disease Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome Juvenile primary lateral sclerosis - K - Kanzaki disease see Schindler disease KD see Spinal and bulbar muscular atrophy Keller syndrome see FG syndrome Kennedy disease see Spinal and bulbar muscular atrophy Kennedy spinal and bulbar muscular atrophy see Spinal and bulbar muscular atrophy Kerasin histiocytosis see Gaucher disease Kerasin lipoidosis see Gaucher disease Kerasin thesaurismosis see Gaucher disease Ketoacidemia see Maple syrup urine disease Kinky hair syndrome see Menkes syndrome Krabbe disease - L - L1 syndrome Lacunar Dementias see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Lafora progressive myoclonus epilepsy Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency Late-onset multiple carboxylase deficiency see biotinidase deficiency Lenz microphthalmia syndrome Lesch-Nyhan syndrome Leukodystrophy, spongiform see Canavan disease Leukodystrophy with Rosenthal fibers see Alexander disease Leukoencephalopathy with swelling and a discrepantly mild course see Megalencephalic leukoencephalopathy with subcortical cysts Leukoencephalopathy with swelling and cysts see Megalencephalic leukoencephalopathy with subcortical cysts Leukoencephalopathy with vanishing white matter Lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency Lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease Lipoid histiocytosis (kerasin type) see Gaucher disease Lipoprotein deficiency disease, HDL, familial see Tangier disease Lissencephaly and agenesis of corpus callosum see X-linked lissencephaly Lissencephaly type 1 see X-linked lissencephaly Lissencephaly, X-linked see X-linked lissencephaly LISX see X-linked lissencephaly LNS see Lesch-Nyhan syndrome Long QT syndrome with syndactyly see Timothy syndrome Lou Gehrig disease see Amyotrophic lateral sclerosis Louis-Bar syndrome see Ataxia-telangiectasia Lowe syndrome Lower motor neuron degeneration with Paget-like bone disease see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia LQT8 see Timothy syndrome Lubag see X-linked dystonia-parkinsonism Lundborg-Unverricht syndrome see Unverricht-Lundborg disease LVM see Megalencephalic leukoencephalopathy with subcortical cysts Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease - M - 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency 3MGA see 3-methylglutaconic aciduria MAA see Lenz microphthalmia syndrome Malonic aciduria see Malonyl-coenzyme A decarboxylase deficiency Malonyl-CoA decarboxylase deficiency see Malonyl-coenzyme A decarboxylase deficiency Malonyl-coenzyme A decarboxylase deficiency Maple syrup urine disease Marinesco-Garland syndrome see Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome Marker X syndrome see Fragile X syndrome Martin-Bell syndrome see Fragile X syndrome MASA syndrome see L1 syndrome MCD deficiency see Malonyl-coenzyme A decarboxylase deficiency McLeod neuroacanthocytosis syndrome MCOPS1 see Lenz microphthalmia syndrome MCPHA see Amish lethal microcephaly MDS see Miller-Dieker syndrome Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease Megalencephalic leukoencephalopathy with subcortical cysts MELAS see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Menkea syndrome see Menkes syndrome Menkes syndrome Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome Mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome Mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome MEPOP see Mitochondrial neurogastrointestinal encephalopathy disease MERRF see Myoclonic epilepsy with ragged-red fibers Metachromatic leukodystrophy 2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency 3-methylglutaconic aciduria MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency Microcephaly, Amish type see Amish lethal microcephaly Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease see Mowat-Wilson syndrome Microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome Microsomal triglyceride transfer protein deficiency disease see Abetalipoproteinemia Miller-Dieker syndrome Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see Succinate-coenzyme A ligase deficiency Mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see Succinate-coenzyme A ligase deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form see Deoxyguanosine kinase deficiency Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Mitochondrial neurogastrointestinal encephalopathy disease MK see Menkes syndrome ML4 see Mucolipidosis type IV MLC see Megalencephalic leukoencephalopathy with subcortical cysts MLD see metachromatic leukodystrophy MLIV see Mucolipidosis type IV MNGIE disease see Mitochondrial neurogastrointestinal encephalopathy disease MNGIE syndrome see Mitochondrial neurogastrointestinal encephalopathy disease MNK see Menkes syndrome Monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome Monosomy 1p36 syndrome see 1p36 deletion syndrome Monosomy 4p see Wolf-Hirschhorn syndrome Monosomy 5p see Cri-du-chat syndrome 17p11.2 monosomy see Smith-Magenis syndrome Monosomy 22q13 see 22q13.3 deletion syndrome Motor neuron disease, amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis Mount-Reback syndrome see Familial paroxysmal nonkinesigenic dyskinesia Mowat-Wilson syndrome MPS I see Mucopolysaccharidosis type I MPS II see Mucopolysaccharidosis type II MSS see Marinesco-Sjögren syndrome MSUD see Maple syrup urine disease Mucolipidosis type IV Mucopolysaccharidosis type I Mucopolysaccharidosis type II Multi-infarct dementia see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Multiple carboxylase deficiency, late-onset see Biotinidase deficiency Multiple carboxylase deficiency, neonatal form see Holocarboxylase synthetase deficiency Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy Muscular dystrophy, limb-girdle, with Paget disease of bone see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MWS see Mowat-Wilson syndrome Myelinosis centralis diffusa see Leukoencephalopathy with vanishing white matter Myoclonic dystonia see Myoclonus-dystonia Myoclonic epilepsy of Lafora see Lafora progressive myoclonus epilepsy Myoclonic epilepsy of Unverricht and Lundborg see Unverricht-Lundborg disease Myoclonic epilepsy with choreoathetosis see Dentatorubral-pallidoluysian atrophy Myoclonic epilepsy with ragged-red fibers Myoclonus-dystonia Myoencephalopathy ragged-red fiber disease see Myoclonic epilepsy with ragged-red fibers Myoneurogastrointestinal encephalopathy syndrome see Mitochondrial neurogastrointestinal encephalopathy disease Myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Myotonia atrophica see Myotonic dystrophy Myotonia dystrophica see Myotonic dystrophy Myotonic dystrophy - N - N-acetylneuraminic acid storage disease see Sialic acid storage disease NAGA deficiency see Schindler disease Naito-Oyanagi disease see dentatorubral-pallidoluysian atrophy NANA storage disease see Sialic acid storage disease NAPB see Hereditary neuralgic amyotrophy NARP see Neuropathy, ataxia, and retinitis pigmentosa Nasu-Hakola disease see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NBIA, PLA2G6-related see Infantile neuroaxonal dystrophy NBIA1 see Pantothenate kinase-associated neurodegeneration Neonatal onset multisystem inflammatory disease Neuralgic Amyotrophy see Hereditary neuralgic amyotrophy Neuritis with brachial predilection see Hereditary neuralgic amyotrophy Neuroacanthocytosis see Chorea-acanthocytosis Neuroaxonal dystrophy, juvenile see Infantile neuroaxonal dystrophy Neuroaxonal dystrophy, juvenile-onset see Pantothenate kinase-associated neurodegeneration Neuroaxonal dystrophy, late infantile see Infantile neuroaxonal dystrophy Neuroaxonal dystrophy, Schindler type see Schindler disease Neurodegeneration with brain iron accumulation, PLA2G6-related see Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation type 1 see Pantothenate kinase-associated neurodegeneration Neuroferritinopathy Neurofibromatosis type 1 Neurofibromatosis type 2 Neurogenic muscle weakness, ataxia, and retinitis pigmentosa see Neuropathy, ataxia, and retinitis pigmentosa Neuronal axonal dystrophy, Schindler type see Schindler disease Neuronal cholesterol lipidosis see Niemann-Pick disease Neuronopathy, distal hereditary motor, type V see Distal hereditary motor neuropathy, type V Neuropathy, ataxia, and retinitis pigmentosa Neuropathy, giant axonal see Giant axonal neuropathy NF1 see Neurofibromatosis type 1 NF2 see Neurofibromatosis type 2 NHD see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Niemann-Pick disease NKH see Glycine encephalopathy NOD see Dentatorubral-pallidoluysian atrophy NOMID see Neonatal onset multisystem inflammatory disease Non-ketotic hyperglycinemia see Glycine encephalopathy Non-Phenylketonuric Hyperphenylalaninemia see Tetrahydrobiopterin deficiency Nonketotic Hyperglycinemia see Glycine encephalopathy Nonkinesigenic choreoathetosis see Familial paroxysmal nonkinesigenic dyskinesia Noradrenaline deficiency see Dopamine beta-hydroxylase deficiency Norepinephrine deficiency see Dopamine beta-hydroxylase deficiency Norio syndrome see Cohen syndrome NPD see Niemann-Pick disease - O - Obesity-hypotonia syndrome see Cohen syndrome Oculo-dento-digital dysplasia see Oculodentodigital dysplasia Oculo-dento-osseous dysplasia see Oculodentodigital dysplasia Oculocerebrorenal syndrome see Lowe syndrome Oculodentodigital dysplasia Oculodentoosseous dysplasia see Oculodentodigital dysplasia Oculogastrointestinal muscular dystrophy see Mitochondrial neurogastrointestinal encephalopathy disease ODD syndrome see Oculodentodigital dysplasia ODDD see Oculodentodigital dysplasia ODOD see Oculodentodigital dysplasia OFDS see oral-facial-digital syndrome OGIMD see Mitochondrial neurogastrointestinal encephalopathy disease 3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency 3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency OKS see FG syndrome Ondine-Hirschsprung disease see Congenital central hypoventilation syndrome Ondine syndrome see Congenital central hypoventilation syndrome OPCH see Pontocerebellar hypoplasia Ophthalmoplegia, supraoptic vertical see Niemann-Pick disease Opitz G/BBB syndrome Opitz-Kaveggia syndrome see FG syndrome Oppenheim dystonia see Early-onset primary dystonia Oral-facial-digital syndrome Oro-facio-digital syndrome see Oral-facial-digital syndrome Orodigitofacial dysostosis see Oral-facial-digital syndrome Orodigitofacial syndrome see Oral-facial-digital syndrome Orofaciodigital syndrome see Oral-facial-digital syndrome Osseous-oculo-dental dysplasia see Oculodentodigital dysplasia 5-oxoprolinemia see Glutathione synthetase deficiency 5-oxoprolinuria see Glutathione synthetase deficiency - P - Pagetoid amyotrophic lateral sclerosis see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PAH deficiency see phenylketonuria Pallister-Hall syndrome Pallister-Killian mosaic syndrome Pantothenate kinase-associated neurodegeneration Parkinson disease Paroxysmal dystonic choreoathetosis see Familial paroxysmal nonkinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia see Familial paroxysmal nonkinesigenic dyskinesia Partial monosomy 4p see Wolf-Hirschhorn syndrome Partial monosomy 17p see Smith-Magenis syndrome Patau syndrome see Trisomy 13 PC deficiency see Pyruvate carboxylase deficiency PCH see Pontocerebellar hypoplasia PD see Parkinson disease PDC see Familial paroxysmal nonkinesigenic dyskinesia PDD see Camurati-Engelmann disease PDE see Pyridoxine-dependent epilepsy Pelizaeus-Merzbacher disease Pepper syndrome see Cohen syndrome Periodic vomiting see Cyclic vomiting syndrome Peripheral neurofibromatosis see Neurofibromatosis type 1 Periventricular heterotopia Peroneal muscular atrophy see Charcot-Marie-tooth disease Phelan-McDermid syndrome see 22q13.3 deletion syndrome Phenylalanine hydroxylase deficiency disease see Phenylketonuria Phenylketonuria Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome Phosphoribosylpyrophosphate synthetase superactivity PHS see Pallister-Hall syndrome Phytanic acid storage disease see Refsum disease PKAN see Pantothenate kinase-associated neurodegeneration PKS see Pallister-Killian mosaic syndrome PKU see Phenylketonuria PLO-SL see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PLOSL see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy PLSJ see Juvenile primary lateral sclerosis PMA see Charcot-Marie-tooth disease PMD see Pelizaeus-Merzbacher disease PME see Unverricht-Lundborg disease PMG see Polymicrogyria PNKD see Familial paroxysmal nonkinesigenic dyskinesia PNPO Deficiency see Pyridoxal 5'-phosphate-dependent epilepsy PNPO-Related Neonatal Epileptic Encephalopathy see Pyridoxal 5'-phosphate-dependent epilepsy POLIP see Mitochondrial neurogastrointestinal encephalopathy disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Polyglucosan body disease, adult form see adult polyglucosan body disease Polymicrogyria Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see Mitochondrial neurogastrointestinal encephalopathy disease Pontocerebellar hypoplasia POR Deficiency see Cytochrome P450 oxidoreductase deficiency PORD see Cytochrome P450 oxidoreductase deficiency Portuguese polyneuritic amyloidosis see transthyretin amyloidosis Portuguese type familial amyloid neuropathy see transthyretin amyloidosis Presenile and senile dementia see Alzheimer disease Presenile dementia with bone cysts see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Prieur-Griscelli syndrome see Neonatal onset multisystem inflammatory disease Primary erythromelalgia see Erythromelalgia Primary hyperuricemia syndrome see Lesch-Nyhan syndrome Primary lateral sclerosis, juvenile see Juvenile primary lateral sclerosis Primary Parkinsonism see Parkinson disease Primary senile degenerative dementia see Alzheimer disease Primary torsion dystonia see Early-onset primary dystonia Prion disease Progeria-like syndrome see Cockayne syndrome Progeroid nanism see Cockayne syndrome Progressive chorea, chronic hereditary (Huntington) see Huntington disease Progressive muscular atrophy see Spinal muscular atrophy Progressive myoclonic epilepsy see Unverricht-Lundborg disease Progressive myoclonic epilepsy type 2 see Lafora progressive myoclonus epilepsy Progressive myoclonus epilepsy 1 see Unverricht-Lundborg disease Progressive myoclonus epilepsy, Lafora type see Lafora progressive myoclonus epilepsy Prominent incisors-obesity-hypotonia syndrome see Cohen syndrome PRPP synthetase overactivity see Phosphoribosylpyrophosphate synthetase superactivity PRPP synthetase superactivity see Phosphoribosylpyrophosphate synthetase superactivity PRPS1 superactivity see Phosphoribosylpyrophosphate synthetase superactivity PRS overactivity see Phosphoribosylpyrophosphate synthetase superactivity PRS superactivity see Phosphoribosylpyrophosphate synthetase superactivity Psychosine lipidosis see Krabbe disease Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxamine 5-prime-phosphate oxidase deficiency see Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxine-5'-phosphate oxidase deficiency see Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxine dependency see Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy Pyroglutamic acidemia see Glutathione synthetase deficiency Pyroglutamic aciduria see Glutathione synthetase deficiency Pyruvate carboxylase deficiency - Q - - R - R(20) syndrome see Ring chromosome 20 syndrome Rapid-onset dystonia parkinsonism RDP see Rapid-onset dystonia parkinsonism Recklinghausen disease, Nerve see Neurofibromatosis type 1 Refsum disease Rett syndrome Riley-Day syndrome see Familial dysautonomia Ring chromosome 14 syndrome Ring chromosome 20 syndrome RODP see Rapid-onset dystonia parkinsonism RSH syndrome see Smith-Lemli-Opitz syndrome RSS see Russell-Silver syndrome RSTS see Rubinstein-Taybi syndrome RTS see Rett syndrome; Rubinstein-Taybi syndrome RTT see Rett syndrome Rubinstein-Taybi syndrome Russell-Silver syndrome - S - SADDAN Sandhoff disease SBMA see Spinal and bulbar muscular atrophy SCAD deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency SCADH deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency SCAN2 see Ataxia with oculomotor apraxia SCAR1 see Ataxia with oculomotor apraxia Scheie syndrome see Mucopolysaccharidosis type I Schilder-Addison Complex see X-linked adrenoleukodystrophy Schindler disease Schwannoma, acoustic, bilateral see Neurofibromatosis type 2 Sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease Sclerosis tuberosa see Tuberous sclerosis complex Sclerosteosis see SOST-related sclerosing bone dysplasia SDAT see Alzheimer disease SDYS see Simpson-Golabi-Behmel syndrome Sedlackova syndrome see 22q11.2 deletion syndrome Segawa syndrome, autosomal recessive see tyrosine hydroxylase deficiency Seitelberger disease see Infantile neuroaxonal dystrophy Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN SGBS see Simpson-Golabi-Behmel syndrome Short-chain acyl-coenzyme A dehydrogenase deficiency Shoulder Girdle Neuropathy see hereditary neuralgic amyotrophy Shprintzen syndrome see 22q11.2 deletion syndrome Sialic acid storage disease Sialolipidosis see Mucolipidosis type IV Sialuria, Finnish type see Sialic acid storage disease Silver-Russell Dwarfism see Russell-Silver syndrome Silver-Russell syndrome see Russell-Silver syndrome Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Simpson syndrome see Simpson-Golabi-Behmel syndrome Skeleton-skin-brain syndrome see SADDAN SLO syndrome see Smith-Lemli-Opitz syndrome SLOS see Smith-Lemli-Opitz syndrome SMA see Spinal muscular atrophy Smith-Lemli-Opitz syndrome Smith-Magenis syndrome SMS see Smith-Magenis syndrome SOST-related sclerosing bone dysplasia SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia Sotos syndrome Spastic ataxia, Charlevoix-Saguenay type see Autosomal recessive spastic ataxia of Charlevoix-Saguenay Spastic ataxia of Charlevoix-Saguenay see Autosomal recessive spastic ataxia of Charlevoix-Saguenay Spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis Spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome Spastic paraplegia 20, autosomal recessive see Troyer syndrome Spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome Spastic paraplegia type 2 Spastic paraplegia type 3A Spastic paraplegia type 4 Spastic paraplegia type 7 Spastic paraplegia type 8 Spastic paraplegia type 11 SPG 8 see Spastic paraplegia type 8 SPG1 see L1 syndrome SPG3A see Spastic paraplegia type 3A SPG11-related hereditary spastic paraplegia with thin corpus callosum see spastic paraplegia type 11 SPG20 see Troyer syndrome Sphingolipidosis, Tay-Sachs see Tay-Sachs disease Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease Sphingomyelin lipidosis see Niemann-Pick disease Sphingomyelinase deficiency see Niemann-Pick disease Spielmeyer-Vogt disease see Juvenile Batten disease Spinal and bulbar muscular atrophy Spinal muscular atrophy Spinal muscular atrophy, distal type V see Distal hereditary motor neuropathy, type V Spinal muscular atrophy, distal, with upper limb predominance see Distal hereditary motor neuropathy, type V Spinocerebellar ataxia, Friedreich see Friedreich ataxia Spinocerebellar ataxia, recessive, non-Friedreich type 1 see Ataxia with oculomotor apraxia Spinocerebellar ataxia with axonal neuropathy type 2 see Ataxia with oculomotor apraxia Spongy degeneration of central nervous system see Canavan disease Spongy degeneration of the brain see Canavan disease Spongy degeneration of white matter in infancy see Canavan disease SRS see Russell-Silver syndrome SSADH deficiency see Succinic semialdehyde dehydrogenase deficiency SSB syndrome see SADDAN Steely hair syndrome see Menkes syndrome Succinate-CoA ligase deficiency see Succinate-coenzyme A ligase deficiency Succinate-coenzyme A ligase deficiency Succinic semialdehyde dehydrogenase deficiency Sulfatide Lipidosis see Metachromatic leukodystrophy Sulfatidosis see Metachromatic leukodystrophy Supernumary der(22) syndrome see Emanuel syndrome Supernumary der(22)t(11;22) syndrome see Emanuel syndrome Supernumary derivative 22 chromosome syndrome see Emanuel syndrome Supravalvar aortic stenosis syndrome see Williams syndrome Swiss type amyloid polyneuropathy see transthyretin amyloidosis 4p- syndrome see Wolf-Hirschhorn syndrome 5p- syndrome see Cri-du-chat syndrome 17p- syndrome see Smith-Magenis syndrome Systemic hemosiderosis due to aceruloplasminemia see Aceruloplasminemia - T - Tangier disease Tay-Sachs disease Tay-Sachs disease, AB variant see GM2-gangliosidosis, AB variant Telangiectasia, cerebello-oculocutaneous see Ataxia-telangiectasia 11q terminal deletion disorder see Jacobsen syndrome Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome Tetra-amelia syndrome Tetrahydrobiopterin deficiency Tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome TH deficiency see Tyrosine hydroxylase deficiency TH-deficient DRD see Tyrosine hydroxylase deficiency Thanatophoric dysplasia Thymidine phosphorylase deficiency see Mitochondrial neurogastrointestinal encephalopathy disease Timothy syndrome Tomaculous neuropathy see Hereditary neuropathy with liability to pressure palsies Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism Total hexosaminidase deficiency see Sandhoff disease Total HPRT deficiency see Lesch-Nyhan syndrome Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome Transmissible Dementias see Prion disease Transmissible spongiform encephalopathies see Prion disease Transthyretin amyloidosis Triple A syndrome Trisomy 13 Trisomy 18 Trisomy 21 see Down syndrome Troyer syndrome TS see Timothy syndrome TSD see Tay-Sachs disease TSEs see Prion disease Tuberose sclerosis see Tuberous sclerosis complex Tuberous sclerosis complex Type I familial amyloid polyneuropathy see transthyretin amyloidosis Type II familial amyloid polyneuropathy see transthyretin amyloidosis Tyrosine hydroxylase deficiency - U - UDP-galactose-4-epimerase deficiency disease see Galactosemia UDP glucose 4-epimerase deficiency disease see Galactosemia UDP glucose hexose-1-phosphate uridylyltransferase deficiency see Galactosemia ULD see Unverricht-Lundborg disease Unverricht-Lundborg disease UTP hexose-1-phosphate uridylyltransferase deficiency see Galactosemia - V - Vacuolating leukoencephalopathy see Megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts see Megalencephalic leukoencephalopathy with subcortical cysts van Bogaert-Bertrand syndrome see Canavan disease van Bogaert-Scherer-Epstein disease see Cerebrotendinous xanthomatosis van Buchem disease see SOST-related sclerosing bone dysplasia van der Knapp disease see Megalencephalic leukoencephalopathy with subcortical cysts Vanishing white matter leukodystrophy see Leukoencephalopathy with vanishing white matter VCFS see 22q11.2 deletion syndrome Velo-cardio-facial syndrome see 22q11.2 deletion syndrome Velocardiofacial syndrome see 22q11.2 deletion syndrome VHL syndrome see von Hippel-Lindau syndrome Vitamin B6-dependent seizures see Pyridoxine-dependent epilepsy Vitamin E Deficiency see Ataxia with vitamin E deficiency VL see Megalencephalic leukoencephalopathy with subcortical cysts VLDLR-associated cerebellar hypoplasia VLDLR-CH see VLDLR-associated cerebellar hypoplasia VLDLRCH see VLDLR-associated cerebellar hypoplasia von Bogaert-Bertrand disease see Canavan disease von Hippel-Lindau syndrome von Recklinghausen disease see Neurofibromatosis type 1 - W - WBS see Williams syndrome WD see Wilson disease WHS see Wolf-Hirschhorn syndrome Williams syndrome Wilson disease WMS see Williams syndrome Wolf-Hirschhorn syndrome WS see Williams syndrome - X - X-ALD see X-linked adrenoleukodystrophy X-linked adrenoleukodystrophy X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked mental retardation syndrome X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome X-linked copper deficiency see Menkes syndrome X-linked corpus callosum agenesis see L1 syndrome X-linked dystonia-parkinsonism X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome X-linked hyperuricemia see Lesch-Nyhan syndrome X-linked lissencephaly X-linked mental retardation and macroorchidism see Fragile X syndrome X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome X-linked primary hyperuricemia see Lesch-Nyhan syndrome X-linked recessive hereditary spastic paraplegia see Spastic paraplegia type 2 X-linked sideroblastic anemia and ataxia X-linked spinal and bulbar muscular atrophy see Spinal and bulbar muscular atrophy X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome Xanthomatosis, cerebrotendinous see Cerebrotendinous xanthomatosis XDP see X-linked dystonia-parkinsonism XLIS see X-linked lissencephaly XLMR-hypotonic face syndrome see Alpha thalassemia X-linked mental retardation syndrome XLSA/A see X-linked sideroblastic anemia and ataxia 47,XX,+21 see Down syndrome 47,XY,+21 see Down syndrome - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.