Brain and 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-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
• absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation see genitopatellar syndrome
• ACADS deficiency see short-chain acyl-CoA 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
• acute infectious polyneuritis see Guillain-Barré syndrome
• acute inflammatory polyneuropathy see Guillain-Barré syndrome
• ACY2 deficiency see Canavan disease
• AD see Alzheimer disease
• Adamantiades-Behcet disease see Behçet disease
• ADLTE see autosomal dominant partial epilepsy with auditory features
• ADNFLE see autosomal dominant nocturnal frontal lobe epilepsy
• adolescent myoclonic epilepsy see juvenile myoclonic epilepsy
• ADPEAF see autosomal dominant partial epilepsy with auditory features
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• adult neuronal ceroid lipofuscinosis see Kufs disease
• adult-onset leukodystrophy with neuroaxonal spheroids see hereditary diffuse leukoencephalopathy with spheroids
• adult polyglucosan body disease
• adult Refsum disease see Refsum disease
• AGA deficiency see aspartylglucosaminuria
• AGAT deficiency see arginine:glycine amidinotransferase deficiency
• agenesis of cerebellar vermis see Joubert syndrome
• agenesis of corpus callosum with chorioretinal abnormality see Aicardi syndrome
• agenesis of corpus callosum with infantile spasms and ocular abnormalities see Aicardi syndrome
• 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
• AGS see Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome
• Aicardi 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
• Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis see Alpers-Huttenlocher syndrome
• Alpers disease see Alpers-Huttenlocher syndrome
• Alpers-Huttenlocher syndrome
• Alpers progressive infantile poliodystrophy see Alpers-Huttenlocher syndrome
• Alpers syndrome see Alpers-Huttenlocher 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-N-acetylgalactosaminidase deficiency see Schindler disease
• alpha-NAGA deficiency see Schindler disease
• alpha thalassemia X-linked intellectual disability syndrome
• ALS see amyotrophic lateral sclerosis
• ALX see Alexander disease
• Alzheimer disease
• Aminoacylase 2 deficiency see Canavan disease
• Amish brittle hair syndrome see trichothiodystrophy
• Amish lethal microcephaly
• amyloid cranial neuropathy with lattice corneal dystrophy see lattice corneal dystrophy type II
• amyloidosis due to mutant gelsolin see lattice corneal dystrophy type II
• amyloidosis, Finnish type see lattice corneal dystrophy type II
• amyloidosis, Meretoja type see lattice corneal dystrophy type II
• amyloidosis V see lattice corneal dystrophy type II
• amyotrophic lateral sclerosis
• Amyotrophic Neuralgia see hereditary neuralgic amyotrophy
• Analphalipoproteinemia see Tangier disease
• Andermann syndrome
• Anderson-Fabry disease see Fabry disease
• anencephalia see anencephaly
• anencephalus see anencephaly
• anencephaly
• Angelman-like syndrome, X-linked see Christianson syndrome
• 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
• ANS see ataxia neuropathy spectrum
• 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
• aprosencephaly see anencephaly
• Arakawa syndrome 1 see glutamate formiminotransferase deficiency
• ARCA1 see autosomal recessive cerebellar ataxia type 1
• ARD see Refsum disease
• arginine:glycine amidinotransferase deficiency
• 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
• Asperger syndrome
• asymbolia for pain see congenital insensitivity to pain
• ataxia-deafness-optic atrophy, lethal see Arts syndrome
• ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome
• ataxia neuropathy spectrum
• ataxia-telangiectasia
• ataxia with lactic acidosis see pyruvate dehydrogenase deficiency
• 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 intellectual disability syndrome
• ATRX syndrome see alpha thalassemia X-linked intellectual disability syndrome
• autism-dementia-ataxia-loss of purposeful hand use syndrome see Rett syndrome
• autosomal dominant cerebrovascular amyloidosis see hereditary cerebral amyloid angiopathy
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Autosomal Dominant Hereditary Spastic Paraplegia see spastic paraplegia type 4
• autosomal dominant leukoencephalopathy with neuroaxonal spheroids see hereditary diffuse leukoencephalopathy with spheroids
• 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 porencephaly type 1 see familial porencephaly
• autosomal dominant spastic paraplegia 8 see spastic paraplegia type 8
• autosomal recessive cerebellar ataxia type 1
• 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 primary microcephaly
• 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
• Azorean ataxia see spinocerebellar ataxia type 3
• 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
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Ruvalcaba-Riley syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bardet-Biedl syndrome
• 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
• BBS see Bardet-Biedl syndrome
• BCKD deficiency see maple syrup urine disease
• BDLS see Cornelia de Lange syndrome
• Behçet disease
• benign essential tremor see essential tremor
• benign familial neonatal seizures
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• beta-galactosidase-1 (GLB1) deficiency see GM1 gangliosidosis
• Beta-galactosidosis see GM1 gangliosidosis
• beta-glucuronidase deficiency see mucopolysaccharidosis type VII
• Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• Beuren syndrome see Williams syndrome
• BFNS see benign familial neonatal seizures
• BH4 deficiency see tetrahydrobiopterin deficiency
• BIDS syndrome see trichothiodystrophy
• Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
• bilateral striopallidodentate calcinosis see familial idiopathic basal ganglia calcification
• BIOT see biotinidase deficiency
• biotinidase deficiency
• blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• Bloom syndrome
• BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• 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
• brain small-vessel disease with hemorrhage see COL4A1-related brain small-vessel disease
• Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
• Branched-Chain Ketoaciduria see maple syrup urine disease
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• Brown-Vialetto-Van Laere syndrome
• BRRS see Bannayan-Riley-Ruvalcaba syndrome
• BTD deficiency see biotinidase deficiency
• bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
• BVVLS see Brown-Vialetto-Van Laere syndrome
• BZS see Bannayan-Riley-Ruvalcaba syndrome
• CAA see hereditary cerebral amyloid angiopathy
• 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
• callosal agenesis and ocular abnormalities see Aicardi syndrome
• Camurati-Engelmann disease
• Canavan disease
• CARASIL see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• carbohydrate-deficient glycoprotein syndrome type Ia see congenital disorder of glycosylation type Ia
• 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
• caudal regression syndrome
• CAVE complex see Pallister-Hall syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CCFDN see congenital cataracts, facial dysmorphism, and neuropathy
• CCHS see congenital central hypoventilation syndrome
• CCM see cerebral cavernous malformation
• CDG Ia see congenital disorder of glycosylation type Ia
• CDG1a see congenital disorder of glycosylation type Ia
• CDGS1a see congenital disorder of glycosylation type Ia
• CDLS see Cornelia de Lange syndrome
• CED see Camurati-Engelmann disease
• central diabetes insipidus see neurohypophyseal diabetes insipidus
• 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
• cerebello-oculo-renal syndrome see Joubert syndrome
• cerebellooculorenal syndrome 1 see Joubert syndrome
• cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome
• cerebral amyloid angiopathy, familial see hereditary cerebral amyloid angiopathy
• cerebral amyloid angiopathy, genetic see hereditary cerebral amyloid angiopathy
• cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• cerebral autosomal recessive 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
• cerebrohepatorenal syndrome see Zellweger spectrum
• 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
• cerebrovascular ferrocalcinosis see familial idiopathic basal ganglia calcification
• CFC syndrome see cardiofaciocutaneous syndrome
• CHAC see chorea-acanthocytosis
• channelopathy-associated insensitivity to pain see congenital insensitivity to pain
• 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
• chemodectoma see nonsyndromic paraganglioma
• cherry red spot myoclonus syndrome see sialidosis
• childhood ataxia with central nervous system hypomyelination see leukoencephalopathy with vanishing white matter
• childhood epileptic encephalopathy with diffuse slow spikes and waves see Lennox-Gastaut syndrome
• childhood myocerebrohepatopathy spectrum
• CHMP2B-related frontotemporal dementia
• CHMRQ1 see VLDLR-associated cerebellar hypoplasia
• Cholesterol thesaurismosis see Tangier disease
• chondrodysplasia punctata, rhizomelic see rhizomelic chondrodysplasia punctata
• chorea-acanthocytosis
• choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
• chorioretinal anomalies with ACC see Aicardi syndrome
• Christianson syndrome
• chromosome 1p36 deletion syndrome see 1p36 deletion syndrome
• chromosome 1q21.1 deletion syndrome see 1q21.1 microdeletion
• chromosome 3-linked frontotemporal dementia see CHMP2B-related frontotemporal dementia
• chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
• chromosome 4p monosomy see Wolf-Hirschhorn syndrome
• chromosome 5p- Syndrome see cri-du-chat syndrome
• chromosome 15q13.3 deletion syndrome see 15q13.3 microdeletion
• chromosome 17p deletion syndrome see Smith-Magenis syndrome
• chromosome 17q21.31 microdeletion syndrome see 17q21.31 microdeletion 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
• chronic progressive external ophthalmoplegia see progressive external ophthalmoplegia
• CINCA see neonatal onset multisystem inflammatory disease
• CIP see congenital insensitivity to pain
• CIPA see congenital insensitivity to pain with anhidrosis
• CISS see cold-induced sweating syndrome
• 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
• cleft spine see spina bifida
• CLN3-related neuronal ceroid-lipofuscinosis see juvenile Batten disease
• CLN4A see Kufs disease
• CLS see Coffin-Lowry syndrome
• CMAMMA see combined malonic and methylmalonic aciduria
• CMS see congenital myasthenic syndrome
• CMT see Charcot-Marie-Tooth disease
• CNTF receptor-related disorders see cold-induced sweating syndrome
• Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
• Cockayne syndrome
• Coffin-Lowry syndrome
• Cohen syndrome
• COL4A1-related brain small-vessel disease
• cold-induced sweating syndrome
• combined malonic and methylmalonic aciduria
• 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
• complex IV deficiency see cytochrome c oxidase deficiency
• compression neuropathy see hereditary neuropathy with liability to pressure palsies
• congenital absence of brain see anencephaly
• congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital cataracts, facial dysmorphism, and neuropathy
• congenital central hypoventilation syndrome
• congenital disorder of glycosylation type Ia
• congenital facial diplegia see Moebius syndrome
• Congenital folate malabsorption see hereditary folate malabsorption
• congenital insensitivity to pain see congenital insensitivity to pain; hereditary sensory and autonomic neuropathy type V
• congenital insensitivity to pain with anhidrosis
• congenital myasthenic syndrome
• congenital ophthalmoplegia and facial paresis see Moebius syndrome
• congenital pontocerebellar hypoplasia see pontocerebellar hypoplasia
• congenital sensory neuropathy see hereditary sensory and autonomic neuropathy type II
• congenital stiff-man syndrome see hereditary hyperekplexia
• congenital stiff-person syndrome see hereditary hyperekplexia
• congenital telangiectatic erythema see Bloom syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• 1q21.1 contiguous gene deletion see 1q21.1 microdeletion
• Copper storage disease see Wilson disease
• Copper transport disease see Menkes syndrome
• Cornelia de Lange syndrome
• CORS see Joubert syndrome
• COX deficiency see cytochrome c oxidase deficiency
• CPEO see progressive external ophthalmoplegia
• CRASH syndrome see L1 syndrome
• CRD see Refsum disease
• creatine deficiency syndrome due to AGAT deficiency see arginine:glycine amidinotransferase deficiency
• creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
• creatine transporter defect see X-linked creatine deficiency
• creatine transporter deficiency see X-linked creatine deficiency
• Cree encephalitis see Aicardi-Goutieres syndrome
• Cree leukoencephalopathy see leukoencephalopathy with vanishing white matter
• cri-du-chat syndrome
• Crigler-Najjar syndrome
• Crisponi syndrome see cold-induced sweating syndrome
• Cross-McKusick syndrome see Troyer syndrome
• CS see Cockayne syndrome
• CTX see cerebrotendinous xanthomatosis
• CVS see cyclic vomiting syndrome
• cyclic vomiting syndrome
• cytochrome c oxidase deficiency
• cytochrome P450 oxidoreductase deficiency
• DAF syndrome see Niemann-Pick disease
• Dandy-Walker syndrome
• Danon disease
• DAT see Alzheimer disease
• DBS see Donnai-Barrow syndrome
• DDC deficiency see aromatic l-amino acid decarboxylase deficiency
• DDPAC see frontotemporal dementia with parkinsonism-17
• De Lange Syndrome see Cornelia de Lange syndrome
• De Morsier syndrome see septo-optic dysplasia
• De Vivo disease see GLUT1 deficiency syndrome
• 3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
• deficiency of butyryl-CoA dehydrogenase see short-chain acyl-CoA dehydrogenase deficiency
• 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-CoA 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
• 1q21.1 deletion see 1q21.1 microdeletion
• 2q37 deletion syndrome
• 4p deletion syndrome see Wolf-Hirschhorn syndrome
• 5p deletion syndrome see cri-du-chat syndrome
• 9q22.3 deletion see 9q22.3 microdeletion
• 9q22 deletion syndrome see 9q22.3 microdeletion
• 9q34.3 deletion syndrome see Kleefstra syndrome
• 11q deletion disorder see Jacobsen syndrome
• 11q deletion syndrome see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• 15q24 deletion see 15q24 microdeletion
• 16p11.2 deletion syndrome
• deletion 17p syndrome see Smith-Magenis syndrome
• 17q21.31 deletion syndrome see 17q21.31 microdeletion 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
• dementia with amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
• 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
• Devic disease see neuromyelitis optica
• Devic neuromyelitis optica see neuromyelitis optica
• Devic syndrome see neuromyelitis optica
• 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
• diabetes insipidus, central see neurohypophyseal diabetes insipidus
• diabetes insipidus, neurogenic see neurohypophyseal diabetes insipidus
• diabetes insipidus, neurohypophyseal see neurohypophyseal diabetes insipidus
• diabetes insipidus, pituitary see neurohypophyseal diabetes insipidus
• diabetes insipidus secondary to vasopressin deficiency see neurohypophyseal diabetes insipidus
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• 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 cerebral sclerosis of Schilder see Alpers-Huttenlocher syndrome
• Diffuse Globoid Body Sclerosis see Krabbe disease
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• disinhibition-dementia-parkinsonism-amytrophy complex see frontotemporal dementia with parkinsonism-17
• distal hereditary motor neuropathy, type II
• distal hereditary motor neuropathy, type V
• distal monosomy 1p36 see 1p36 deletion syndrome
• DNMT1-related dementia, deafness, and sensory neuropathy see hereditary sensory and autonomic neuropathy type IE
• Donnai-Barrow syndrome
• dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
• dopa-responsive dystonia
• dopa-responsive dystonia due to sepiapterin reductase deficiency see sepiapterin reductase deficiency
• dopamine beta-hydroxylase deficiency
• Down syndrome
• DRD see dopa-responsive dystonia
• DRPLA see dentatorubral-pallidoluysian atrophy
• DSMAV see distal hereditary motor neuropathy, type V
• DTM1 see CHMP2B-related frontotemporal dementia
• 22q11.2 duplication
• duplication/inversion 15q11 see isodicentric chromosome 15 syndrome
• Dwarf, thanatophoric see thanatophoric dysplasia
• dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
• dysencephalia splanchnocystica see Meckel syndrome
• dysequilibrium syndrome-VLDLR see VLDLR-associated cerebellar hypoplasia
• dysmyelinating leukodystrophy and spastic paraparesis see fatty acid hydroxylase-associated neurodegeneration
• 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, hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• 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
• EA see episodic ataxia
• EAOH see ataxia with oculomotor apraxia
• early infantile epileptic encephalopathy see X-linked infantile spasm syndrome
• 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
• encephalopathy with basal ganglia calcification see Aicardi-Goutieres syndrome
• 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
• EPM1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• erythermalgia see erythromelalgia
• erythromelalgia
• essential tremor
• ethylmalonic encephalopathy
• ETL1 see autosomal dominant partial epilepsy with auditory features
• FA see Friedreich ataxia
• Fabry disease
• facial dysmorphism-intellectual deficit-short stature-hearing loss see Myhre syndrome
• faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
• FAHN see fatty acid hydroxylase-associated neurodegeneration
• Familial Acoustic Neuromas see neurofibromatosis type 2
• familial Alzheimer disease (FAD) see Alzheimer disease
• familial amyloid polyneuropathy type IV see lattice corneal dystrophy type II
• familial amyloidosis, Finnish type see lattice corneal dystrophy type II
• familial aplasia of the vermis see Joubert syndrome
• 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 erythromelalgia see erythromelalgia
• familial hemiplegic migraine
• Familial High Density Lipoprotein Deficiency Disease see Tangier disease
• familial hyperekplexia see hereditary hyperekplexia
• Familial Hypoalphalipoproteinemia see Tangier disease
• familial idiopathic basal ganglia calcification
• familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis see Aicardi-Goutieres syndrome
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• familial nodular heterotopia see periventricular heterotopia
• familial nonhemolytic unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• familial paraganglioma-pheochromocytoma syndromes see hereditary paraganglioma-pheochromocytoma
• familial paroxysmal kinesigenic dyskinesia
• familial paroxysmal nonkinesigenic dyskinesia
• familial Pick's disease see frontotemporal dementia with parkinsonism-17
• familial porencephaly
• familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
• familial rectal pain see paroxysmal extreme pain disorder
• familial tremor see essential tremor
• Familial vascular leukoencephalopathy see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• fatty acid hydroxylase-associated neurodegeneration
• 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
• FHS see Floating-Harbor syndrome
• FIBGC see familial idiopathic basal ganglia calcification
• fibrinoid degeneration of astrocytes see Alexander disease
• FIGLU-uria see glutamate formiminotransferase deficiency
• Fisher syndrome see Guillain-Barré syndrome
• FIVE see ataxia with vitamin E deficiency
• FLHS see Floating-Harbor syndrome
• Floating-Harbor syndrome
• FOAR syndrome see Donnai-Barrow syndrome
• focal hand dystonia see task-specific focal dystonia
• focal task-specific dystonia see task-specific focal dystonia
• 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-associated tremor/ataxia 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
• frontotemporal dementia with parkinsonism-17
• frontotemporal lobar degeneration see GRN-related frontotemporal dementia
• Fryns syndrome
• FTD-3 see CHMP2B-related frontotemporal dementia
• FTD-CHMP2B see CHMP2B-related frontotemporal dementia
• FTD-GRN see GRN-related frontotemporal dementia
• FTD-PGRN see GRN-related frontotemporal dementia
• FTD3 see CHMP2B-related frontotemporal dementia
• FTDP-17 see frontotemporal dementia with parkinsonism-17
• FTDP-17 GRN see GRN-related frontotemporal dementia
• FTDU-17 see GRN-related frontotemporal dementia
• FTLD see GRN-related frontotemporal dementia
• FTSD see task-specific focal dystonia
• 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
• FXTAS see fragile X-associated tremor/ataxia syndrome
• 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
• GATM deficiency see arginine:glycine amidinotransferase deficiency
• Gaucher disease
• GBS see Guillain-Barré syndrome
• GCL see Krabbe disease
• GD see Gaucher disease
• Gelineau syndrome see narcolepsy
• gelsolin-related amyloidosis see lattice corneal dystrophy type II
• genitopatellar syndrome
• 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
• glycogen storage disease type 2B see Danon disease
• glycogen storage disease type IIb see Danon disease
• glycosylasparaginase deficiency see aspartylglucosaminuria
• GM1 gangliosidosis
• 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
• Golabi-Ito-Hall syndrome see Renpenning syndrome
• gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
• GPS see genitopatellar syndrome
• Greenfield Disease see metachromatic leukodystrophy
• Greig cephalopolysyndactyly syndrome
• GRN-related frontotemporal dementia
• GTPS see GLUT1 deficiency syndrome
• guanidinoacetate methyltransferase deficiency
• Guillain-Barré syndrome
• GUSB deficiency see mucopolysaccharidosis type VII
• 3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• Haddad syndrome see congenital central hypoventilation syndrome
• Hall-Hittner syndrome see CHARGE syndrome
• Hall-Pallister syndrome see Pallister-Hall syndrome
• Hamel cerebropalatocardiac syndrome see Renpenning syndrome
• HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Haw River syndrome see dentatorubral-pallidoluysian atrophy
• HCC see hypomyelination and congenital cataract
• HCHWA see hereditary cerebral amyloid angiopathy
• HDDD1 see GRN-related frontotemporal dementia
• HDDD2 see GRN-related frontotemporal dementia
• HDL Lipoprotein Deficiency Disease see Tangier disease
• HDLS see hereditary diffuse leukoencephalopathy with spheroids
• Hemiplegic Migraine, Familial see familial hemiplegic migraine
• Hemiplegic-ophthalmoplegic migraine see familial hemiplegic migraine
• hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatocerebral mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
• Hepatolenticular degeneration syndrome see Wilson disease
• hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
• hereditary cerebral amyloid angiopathy
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• hereditary diffuse leukoencephalopathy with spheroids
• hereditary dysphasic disinhibition dementia see GRN-related frontotemporal dementia
• 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 hyperekplexia
• 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 paraganglioma-pheochromocytoma
• hereditary progressive dystonia with marked diurnal fluctuation see dopa-responsive dystonia
• hereditary sensory and autonomic neuropathy, type 4 see congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy type IE
• hereditary sensory and autonomic neuropathy type II
• hereditary sensory and autonomic neuropathy type IV see congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy type V
• hereditary sensory neuropathy type 1
• Hereditary Spastic Paraplegia
• hereditary spastic paraplegia 8 see spastic paraplegia type 8
• hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• 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
• HGPRT deficiency see Lesch-Nyhan syndrome
• Hippel-Lindau disease see von Hippel-Lindau syndrome
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HLCS deficiency see holocarboxylase synthetase deficiency
• HMDPC see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• HMG see 3-hydroxy-3-methylglutaryl-CoA 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 II see hereditary sensory and autonomic neuropathy type II
• HSAN Type III see familial dysautonomia
• HSAN type IV see congenital insensitivity to pain with anhidrosis
• HSAN type V see hereditary sensory and autonomic neuropathy type V
• HSAN V see hereditary sensory and autonomic neuropathy type V
• HSAN2 see hereditary sensory and autonomic neuropathy type II
• HSAN3 see familial dysautonomia
• HSAN4 see congenital insensitivity to pain with anhidrosis
• HSAN5 see hereditary sensory and autonomic neuropathy type V
• HSANII see hereditary sensory and autonomic neuropathy type II
• HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• HSN I see hereditary sensory neuropathy type 1
• HSN IE see hereditary sensory and autonomic neuropathy type IE
• HSN-III see familial dysautonomia
• HSN Type I see hereditary sensory neuropathy type 1
• HSN type II see hereditary sensory and autonomic neuropathy type II
• HSN1 see hereditary sensory neuropathy type 1
• HSNIE see hereditary sensory and autonomic neuropathy type IE
• 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
• hydrocephalus, internal, Dandy-Walker type see Dandy-Walker syndrome
• hydrocephalus, noncommunicating, Dandy-Walker type see Dandy-Walker syndrome
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA 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-CoA lyase deficiency
• Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
• hyperekplexia see hereditary hyperekplexia
• Hyperglycinemia, Nonketotic see glycine encephalopathy
• hyperimidodipeptiduria see prolidase deficiency
• hypermanganesemia with dystonia, polycythemia, and cirrhosis
• 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
• hyperphosphatasemia tarda see SOST-related sclerosing bone dysplasia
• 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 deficiency see Lesch-Nyhan syndrome
• hypoxanthine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• I2S deficiency see mucopolysaccharidosis type II
• IAHSP see infantile-onset ascending hereditary spastic paralysis
• IBIDS see trichothiodystrophy
• IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• idic(15) see isodicentric chromosome 15 syndrome
• IDUA deficiency see mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
• imidodipeptidase deficiency see prolidase deficiency
• INAD see infantile neuroaxonal dystrophy
• inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• incontinentia pigmenti
• infantile epileptic-dyskinetic encephalopathy see X-linked infantile spasm syndrome
• infantile hemiplegia with porencephaly see familial porencephaly
• 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
• infantile-onset spinocerebellar ataxia
• infantile subacute necrotizing encephalopathy see Leigh syndrome
• Inherited Human Transmissible Spongiform Encephalopathies see prion disease
• inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
• intellectual deficit, X-linked, South African type see Christianson syndrome
• intermittent ataxia with pyruvate dehydrogenase deficiency see pyruvate dehydrogenase deficiency
• interstitial deletion of chromosome 15q24 see 15q24 microdeletion
• intracerebral cavernous hemangioma see cerebral cavernous malformation
• inv dup(15) see isodicentric chromosome 15 syndrome
• inverted duplication 15 see isodicentric chromosome 15 syndrome
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• IOSCA see infantile-onset spinocerebellar ataxia
• IP see incontinentia pigmenti
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• 18p isochromosome see tetrasomy 18p
• isodicentric chromosome 15 syndrome
• isolated holoprosencephaly see nonsyndromic holoprosencephaly
• isolated HPE see nonsyndromic holoprosencephaly
• ISSX see X-linked infantile spasm syndrome
• Jacobsen syndrome
• Jaeken syndrome see congenital disorder of glycosylation type Ia
• Janz syndrome see juvenile myoclonic epilepsy
• JBTS see Joubert syndrome
• Joubert 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 myoclonic epilepsy
• juvenile primary lateral sclerosis
• juvenile subacute necrotizing encephalopathy see Leigh syndrome
• Kabuki syndrome
• 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
• Kleefstra syndrome
• KMS see Kabuki syndrome
• Koolen-De Vries syndrome see 17q21.31 microdeletion syndrome
• Koolen syndrome see 17q21.31 microdeletion syndrome
• Krabbe disease
• Kufs disease
• Kymenlaakso syndrome see lattice corneal dystrophy type II
• l-arginine:glycine aminidotransferase deficiency see arginine:glycine amidinotransferase deficiency
• L1 syndrome
• Lacunar Dementias see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Lafora progressive myoclonus epilepsy
• Landry-Guillain-Barre syndrome see Guillain-Barré syndrome
• LAPS syndrome see Myhre syndrome
• laryngotracheal stenosis, arthropathy, prognathism, and short stature see Myhre syndrome
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• lattice corneal dystrophy type II
• Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon syndrome see Bardet-Biedl syndrome
• LBSL see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• Leigh syndrome
• Leisti-Hollander-Rimoin syndrome see Floating-Harbor syndrome
• Lennox-Gastaut syndrome
• Lenz microphthalmia syndrome
• Lesch-Nyhan syndrome
• Leukodystrophy, spongiform see Canavan disease
• leukodystrophy with Rosenthal fibers see Alexander disease
• leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• 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
• LFS see Lujan syndrome
• LGS see Lennox-Gastaut syndrome
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-CoA 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
• LMBBS see Bardet-Biedl syndrome
• LMS see Bardet-Biedl syndrome
• LND see Lesch-Nyhan syndrome
• 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
• Lubs X-linked mental retardation syndrome see MECP2 duplication syndrome
• Lujan syndrome
• Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
• Luschka-Magendie foramina atresia see Dandy-Walker syndrome
• LVM see megalencephalic leukoencephalopathy with subcortical cysts
• lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease
• lysosomal glycogen storage disease with normal acid maltase see Danon disease
• 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3MGA see 3-methylglutaconic aciduria
• MAA see Lenz microphthalmia syndrome
• Machado-Joseph disease see spinocerebellar ataxia type 3
• Maeda syndrome see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• malonic aciduria see malonyl-CoA decarboxylase deficiency
• malonyl-CoA decarboxylase deficiency
• malonyl-coenzyme A decarboxylase deficiency see malonyl-CoA 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-CoA decarboxylase deficiency
• MCHS see childhood myocerebrohepatopathy spectrum
• McLeod neuroacanthocytosis syndrome
• MCOPS1 see Lenz microphthalmia syndrome
• MCPH see autosomal recessive primary microcephaly
• MCPHA see Amish lethal microcephaly
• MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency see Allan-Herndon-Dudley syndrome
• MDS see Miller-Dieker syndrome
• Meckel syndrome
• MECP2 duplication syndrome
• MECP2-related severe neonatal encephalopathy
• Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease
• megalencephalic leukoencephalopathy with subcortical cysts
• MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• MEMSA see myoclonic epilepsy myopathy sensory ataxia
• 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
• Meretoja syndrome see lattice corneal dystrophy type II
• 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
• MG see myasthenia gravis
• 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
• microcephaly primary hereditary see autosomal recessive primary microcephaly
• 1q21.1 microdeletion
• 9q22.3 microdeletion
• 9q34.3 microdeletion syndrome see Kleefstra syndrome
• 15q13.3 microdeletion
• 15q24 microdeletion
• 17q21.31 microdeletion syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• Miller-Dieker syndrome
• MIRAS see ataxia neuropathy spectrum
• mitochondrial aspartyl-tRNA synthetase deficiency see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• mitochondrial complex IV deficiency see cytochrome c oxidase deficiency
• mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see succinate-CoA ligase deficiency
• mitochondrial DNA depletion syndrome 6 see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see succinate-CoA ligase deficiency
• mitochondrial DNA depletion syndrome, hepatocerebral form see deoxyguanosine kinase deficiency
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial recessive ataxia syndrome see ataxia neuropathy spectrum
• MJD see spinocerebellar ataxia type 3
• MK see Menkes syndrome
• MKS see Meckel 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
• Möbius sequence see Moebius syndrome
• Mobius syndrome see Moebius syndrome
• Moebius 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 17q21.31 see 17q21.31 microdeletion syndrome
• monosomy 22q13 see 22q13.3 deletion syndrome
• Morvan disease see hereditary sensory and autonomic neuropathy type II
• 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
• MPS III see mucopolysaccharidosis type III
• MPS VII see mucopolysaccharidosis type VII
• MPS7 see mucopolysaccharidosis type VII
• MPV17-associated hepatocerebral MDS see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MSA see multiple system atrophy
• MSS see Marinesco-Sjögren syndrome
• MSUD see maple syrup urine disease
• MTDPS6 see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• mucolipidosis I see sialidosis
• mucolipidosis type I see sialidosis
• mucolipidosis type IV
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• mucopolysaccharidosis type III
• mucopolysaccharidosis type VII
• 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
• multiple system atrophy
• 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
• myasthenia gravis
• myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
• Myhre-Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Myhre syndrome
• myoclonic dystonia see myoclonus-dystonia
• myoclonic epilepsy myopathy sensory ataxia
• 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 cherry red spot syndrome see sialidosis
• 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-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
• narcolepsy
• narcoleptic syndrome see narcolepsy
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Navajo familial neurogenic arthropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neurohepatopathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neuropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• NB see neuroblastoma
• NBIA, PLA2G6-related see infantile neuroaxonal dystrophy
• NBIA1 see pantothenate kinase-associated neurodegeneration
• Nemoto disease see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• neonatal onset multisystem inflammatory disease
• Neuralgic Amyotrophy see hereditary neuralgic amyotrophy
• neuritis with brachial predilection see hereditary neuralgic amyotrophy
• Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
• neuroaxonal dystrophy, Schindler type see Schindler disease
• neuroaxonal leukodystrophy see hereditary diffuse leukoencephalopathy with spheroids
• neuroblastoma
• 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
• neurohypophyseal diabetes insipidus
• neuromyelitis optica
• neuronal axonal dystrophy, Schindler type see Schindler disease
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• 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
• Niikawa-Kuroki syndrome see Kabuki syndrome
• NKH see glycine encephalopathy
• NNH see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• NOD see dentatorubral-pallidoluysian atrophy
• NOMID see neonatal onset multisystem inflammatory disease
• non-distal tetrasomy 15q see isodicentric chromosome 15 syndrome
• non-ketotic hyperglycinemia see glycine encephalopathy
• non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency
• non-syndromic, non-chromosomal holoprosencephaly see nonsyndromic holoprosencephaly
• non-syndromic, non-chromosomal HPE see nonsyndromic holoprosencephaly
• Nonketotic Hyperglycinemia see glycine encephalopathy
• nonkinesigenic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
• nonsyndromic holoprosencephaly
• nonsyndromic paraganglioma
• noradrenaline deficiency see dopamine beta-hydroxylase deficiency
• norepinephrine deficiency see dopamine beta-hydroxylase deficiency
• Norio syndrome see Cohen syndrome
• NPD see Niemann-Pick disease
• obesity-hypotonia syndrome see Cohen syndrome
• occupational cramp see task-specific focal dystonia
• occupational dystonia see task-specific focal dystonia
• 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-CoA lyase deficiency
• 3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• Ohaha syndrome see infantile-onset spinocerebellar ataxia
• Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• OKS see FG syndrome
• Old Silk Route disease see Behçet disease
• olivopontocerebellar atrophy I see spinocerebellar ataxia type 1
• Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
• Ondine Syndrome see congenital central hypoventilation syndrome
• OPCA see multiple system atrophy
• OPCH see pontocerebellar hypoplasia
• open spine see spina bifida
• ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis see infantile-onset spinocerebellar ataxia
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• Opitz G/BBB syndrome
• Opitz-Kaveggia syndrome see FG syndrome
• Oppenheim dystonia see early-onset primary dystonia
• optic-spinal MS see neuromyelitis optica
• opticospinal MS see neuromyelitis optica
• 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
• 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
• pain insensitivity, congenital see congenital insensitivity to pain
• Pallister-Hall syndrome
• Pallister-Killian mosaic syndrome
• pantothenate kinase-associated neurodegeneration
• paragangliomas 1 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 2 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 3 see hereditary paraganglioma-pheochromocytoma
• paragangliomas 4 see hereditary paraganglioma-pheochromocytoma
• Parkinson disease
• parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• parkinsonism with alveolar hypoventilation and mental depression see Perry syndrome
• paroxysmal dystonic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
• paroxysmal extreme pain disorder
• paroxysmal kinesigenic choreoathetosis see familial paroxysmal kinesigenic dyskinesia
• paroxysmal kinesigenic dyskinesia see familial paroxysmal kinesigenic 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
• PBD, ZSS see Zellweger spectrum
• PC deficiency see pyruvate carboxylase deficiency
• PCH see pontocerebellar hypoplasia
• PD see Parkinson disease; prolidase deficiency
• PDC see familial paroxysmal nonkinesigenic dyskinesia
• PDD see Camurati-Engelmann disease
• PDE see pyridoxine-dependent epilepsy
• PDH deficiency see pyruvate dehydrogenase deficiency
• PDHC deficiency see pyruvate dehydrogenase deficiency
• Pelizaeus-Merzbacher disease
• Pelletier-Leisti syndrome see Floating-Harbor syndrome
• PEO see progressive external ophthalmoplegia
• PEPD see paroxysmal extreme pain disorder
• Pepper syndrome see Cohen syndrome
• peptidase deficiency see prolidase deficiency
• Periodic vomiting see cyclic vomiting syndrome
• Peripheral Neurofibromatosis see neurofibromatosis type 1
• periventricular heterotopia
• peroneal muscular atrophy see Charcot-Marie-Tooth disease
• peroxisome biogenesis disorders, Zellweger syndrome spectrum see Zellweger spectrum
• Perry syndrome
• petit mal, impulsive see juvenile myoclonic epilepsy
• PEXPD see paroxysmal extreme pain disorder
• PGK deficiency see phosphoglycerate kinase deficiency
• PGK1 deficiency see phosphoglycerate kinase deficiency
• 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
• phosphoglycerate kinase deficiency
• phosphomannomutase 2 deficiency see congenital disorder of glycosylation type Ia
• phosphoribosylpyrophosphate synthetase superactivity
• PHS see Pallister-Hall syndrome; Pitt-Hopkins syndrome
• phytanic acid storage disease see Refsum disease
• PIBIDS see trichothiodystrophy
• Pitt-Hopkins syndrome
• pituitary diabetes insipidus see neurohypophyseal diabetes insipidus
• 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
• PME with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• PMG see polymicrogyria
• PMM deficiency see congenital disorder of glycosylation type Ia
• PMM2-CDG see congenital disorder of glycosylation type Ia
• 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
• pontobulbar palsy with deafness see Brown-Vialetto-Van Laere syndrome
• pontocerebellar hypoplasia
• POR Deficiency see cytochrome P450 oxidoreductase deficiency
• PORD see cytochrome P450 oxidoreductase deficiency
• porencephaly type 1 see familial porencephaly
• Porteous syndrome see Renpenning syndrome
• Portuguese polyneuritic amyloidosis see transthyretin amyloidosis
• Portuguese type familial amyloid neuropathy see transthyretin amyloidosis
• PPM-X syndrome
• Presenile and senile dementia see Alzheimer disease
• Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• PRICKLE1-related progressive myoclonus epilepsy with ataxia
• Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
• primary autosomal recessive microcephaly see autosomal recessive primary microcephaly
• 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 bulbar palsy with sensorineural deafness see Brown-Vialetto-Van Laere syndrome
• Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
• progressive external ophthalmoplegia
• progressive muscular atrophy see spinal muscular atrophy
• progressive myoclonic epilepsy see Unverricht-Lundborg disease
• progressive myoclonic epilepsy 1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• 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
• progressive myoclonus epilepsy with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• progressive supranuclear palsy
• prolidase deficiency
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• Proteus 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
• PS see Proteus syndrome
• pseudo-TORCH syndrome see Aicardi-Goutieres syndrome
• pseudotoxoplasmosis syndrome see Aicardi-Goutieres syndrome
• PSP see progressive supranuclear palsy
• psychosine lipidosis see Krabbe disease
• PTHS see Pitt-Hopkins syndrome
• 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
• pyruvate dehydrogenase deficiency
• r(20) syndrome see ring chromosome 20 syndrome
• rachischisis see spina bifida
• rapid-onset dystonia parkinsonism
• RCDP see rhizomelic chondrodysplasia punctata
• RCP see rhizomelic chondrodysplasia punctata
• RDP see rapid-onset dystonia parkinsonism
• recessive ataxia of Beauce see autosomal recessive cerebellar ataxia type 1
• Recklinghausen Disease, Nerve see neurofibromatosis type 1
• Refsum disease
• Renpenning syndrome
• Rett syndrome
• rhizomelic chondrodysplasia punctata
• Richardson's syndrome see progressive supranuclear palsy
• Riley-Day Syndrome see familial dysautonomia
• Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• 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
• Ruvalcaba-Myhre-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Ruvalcaba-Myhre syndrome see Bannayan-Riley-Ruvalcaba syndrome
• sacral agenesis see caudal regression syndrome
• sacral defect with anterior meningocele see caudal regression syndrome
• SADDAN
• Sandhoff disease
• SANDO see ataxia neuropathy spectrum
• Sanfilippo syndrome see mucopolysaccharidosis type III
• Say-Barber-Biesecker-Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYS variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYSS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBMA see spinal and bulbar muscular atrophy
• SCA1 see spinocerebellar ataxia type 1
• SCA2 see spinocerebellar ataxia type 2
• SCA3 see spinocerebellar ataxia type 3
• SCA6 see spinocerebellar ataxia type 6
• SCAD deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCADH deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCAE see myoclonic epilepsy myopathy sensory ataxia
• 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
• Schinzel-Giedion syndrome
• 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
• sensory ataxia neuropathy dysarthria and ophthalmoplegia see ataxia neuropathy spectrum
• sepiapterin reductase deficiency
• septo-optic dysplasia
• septooptic dysplasia see septo-optic dysplasia
• Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
• SFN see small fiber neuropathy
• SGBS see Simpson-Golabi-Behmel syndrome
• short-chain acyl-CoA dehydrogenase deficiency
• Shoulder Girdle Neuropathy see hereditary neuralgic amyotrophy
• Shprintzen syndrome see 22q11.2 deletion syndrome
• Shy-Drager syndrome see multiple system atrophy
• sialic acid storage disease
• sialidosis
• 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
• 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
• SLC6A8 deficiency see X-linked creatine deficiency
• SLC6A8-related creatine transporter deficiency see X-linked creatine deficiency
• SLO syndrome see Smith-Lemli-Opitz syndrome
• SLOS see Smith-Lemli-Opitz syndrome
• Sly Syndrome see mucopolysaccharidosis type VII
• SMA see spinal muscular atrophy
• small fiber neuropathy
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• SMS see Smith-Magenis syndrome
• SOD see septo-optic dysplasia
• Sohar-Crisponi syndrome see cold-induced sweating 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 17 see Silver syndrome
• spastic paraplegia 20, autosomal recessive see Troyer syndrome
• spastic paraplegia 35 see fatty acid hydroxylase-associated neurodegeneration
• 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
• spastic paraplegia with amyotrophy of hands and feet see Silver syndrome
• 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
• SPG17 see Silver syndrome
• 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
• spina bifida
• 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, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
• spinocerebellar ataxia type 1
• spinocerebellar ataxia type 2
• spinocerebellar ataxia type 3
• spinocerebellar ataxia type 6
• spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with epilepsy see myoclonic epilepsy myopathy sensory ataxia
• 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
• SPR deficiency see sepiapterin reductase deficiency
• SRS see Russell-Silver syndrome
• SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
• SSB syndrome see SADDAN
• startle syndrome see hereditary hyperekplexia
• Steele-Richardson-Olszewski syndrome see progressive supranuclear palsy
• Steely Hair Syndrome see Menkes syndrome
• STHE see hereditary hyperekplexia
• stiff-baby syndrome see hereditary hyperekplexia
• striatonigral degeneration see multiple system atrophy
• striopallidodentate calcinosis see familial idiopathic basal ganglia calcification
• subacute necrotizing encephalomyelopathy see Leigh syndrome
• submandibular, ocular, and rectal pain with flushing see paroxysmal extreme pain disorder
• 9q subtelomeric deletion syndrome see Kleefstra syndrome
• succinate-CoA ligase deficiency
• succinate-coenzyme A ligase deficiency see succinate-CoA 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
• supranuclear palsy, progressive see progressive supranuclear palsy
• Supravalvar aortic stenosis syndrome see Williams syndrome
• Sutherland-Haan syndrome see Renpenning syndrome
• Swiss type amyloid polyneuropathy see transthyretin amyloidosis
• 4p- syndrome see Wolf-Hirschhorn syndrome
• 5p- syndrome see cri-du-chat syndrome
• 9q- syndrome see Kleefstra syndrome
• 17p- syndrome see Smith-Magenis syndrome
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• Tangier disease
• task-specific focal dystonia
• 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
• tetrasomy 18p
• 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
• trichothiodystrophy
• triple A syndrome
• triple symptom complex see Behçet disease
• trisomy 13
• trisomy 18
• trisomy 21 see Down syndrome
• trisomy G see Down syndrome
• Trisomy Xq28 see MECP2 duplication syndrome
• Troyer syndrome
• true microcephaly see autosomal recessive primary microcephaly
• TS see Timothy syndrome
• TSD see Tay-Sachs disease
• TSEs see prion disease
• TTD see trichothiodystrophy
• tuberose sclerosis see tuberous sclerosis complex
• tuberous sclerosis complex
• type 1 spinocerebellar ataxia see spinocerebellar ataxia type 1
• type 6 spinocerebellar ataxia see spinocerebellar ataxia type 6
• type I familial amyloid polyneuropathy see transthyretin amyloidosis
• type II familial amyloid polyneuropathy see transthyretin amyloidosis
• tyrosine hydroxylase deficiency
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• ULD see Unverricht-Lundborg disease
• Unverricht-Lundborg disease
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• 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
• vasopressin defective diabetes insipidus see neurohypophyseal diabetes insipidus
• vasopressin deficiency see neurohypophyseal diabetes insipidus
• 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
• WBS see Williams syndrome
• WD see Wilson disease
• WHS see Wolf-Hirschhorn syndrome
• Wilhelmsen-Lynch disease see frontotemporal dementia with parkinsonism-17
• Williams syndrome
• Wilson disease
• WMS see Williams syndrome
• Wolf-Hirschhorn syndrome
• WS see Williams syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenoleukodystrophy
• X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked intellectual disability 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 creatine deficiency
• 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 infantile spasm syndrome
• X-linked intellectual deficit due to PQBP1 mutations see Renpenning syndrome
• X-linked intellectual deficit, Renpenning type see Renpenning syndrome
• X-linked intellectual deficit with marfanoid habitus see Lujan syndrome
• X-linked lissencephaly
• X-linked mental retardation and macroorchidism see fragile X syndrome
• X-linked mental retardation with marfanoid habitus see Lujan 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 intellectual disability syndrome
• XLMR with marfanoid features see Lujan syndrome
• XLSA/A see X-linked sideroblastic anemia and ataxia
• 47,XX,+21 see Down syndrome
• 47,XY,+21 see Down syndrome
• Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Zellweger spectrum