Nervous System Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Nervous System Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Nervous System Diseases

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12q14 microdeletion syndrome 
15q13.3 microdeletion syndrome 
15q24 microdeletion syndrome 
2-methyl-3-hydroxybutyric aciduria 
2-methylbutyryl-CoA dehydrogenase deficiency 
22q11.2 deletion syndrome 
22q13.3 deletion syndrome 
2q23.1 microdeletion syndrome 
2q37 deletion syndrome 
3-alpha hydroxyacyl-CoA dehydrogenase deficiency 
3MC syndrome 
48,XXXY syndrome 
48,XYYY 
49,XXXXY syndrome 
5q14.3 microdeletion syndrome 
6-pyruvoyl-tetrahydropterin synthase deficiency 
Aarskog syndrome 
Abetalipoproteinemia 
Absence of septum pellucidum 
Aceruloplasminemia 
Acrocallosal syndrome, Schinzel type 
Acrofacial dysostosis Catania type 
Acrofacial dysostosis Rodriguez type 
Acute cholinergic dysautonomia 
Acute disseminated encephalomyelitis 
Acute intermittent porphyria 
ADCY5-related dyskinesia 
Adenosine monophosphate deaminase 1 deficiency 
Adenylosuccinase deficiency 
Adie syndrome 
Adrenomyeloneuropathy 
Adult polyglucosan body disease 
Adult-onset nemaline myopathy 
Advanced sleep phase syndrome, familial 
Agnosia 
Aicardi syndrome 
Aicardi-Goutieres syndrome 
Aicardi-Goutieres syndrome type 5 
AIDS Dementia Complex 
Al Gazali Aziz Salem syndrome 
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus 
Albinism deafness syndrome 
Alexander disease 
ALG1-CDG (CDG-Ik) 
ALG11-CDG (CDG-Ip) 
ALG12-CDG (CDG-Ig) 
ALG13-CDG 
ALG2-CDG (CDG-Ii) 
ALG3-CDG (CDG-Id) 
ALG6-CDG (CDG-Ic) 
ALG8-CDG (CDG-Ih) 
ALG9-CDG (CDG-IL) 
Allan-Herndon-Dudley syndrome 
Alopecia epilepsy oligophrenia syndrome of Moynahan 
Alopecia, epilepsy, pyorrhea, mental subnormality 
Alopecia-contractures-dwarfism-intellectual disability syndrome 
Alopecia-intellectual disability syndrome 
Alpers syndrome 
Alpha-ketoglutarate dehydrogenase deficiency 
Alpha-mannosidosis 
Alpha-thalassemia x-linked intellectual disability syndrome 
Alternating hemiplegia of childhood 
Alzheimer disease type 4 - See Early-onset, autosomal dominant Alzheimer disease 
Alzheimer's disease without neurofibrillary tangles 
Aminoacylase 1 deficiency 
Aminolevulinate dehydratase deficiency porphyria 
Amish lethal microcephaly 
Amish Nemaline Myopathy 
Amyloid neuropathy 
Amyopathic dermatomyositis 
Amyotrophic lateral sclerosis 
Amyotrophic lateral sclerosis type 6 - See Amyotrophic lateral sclerosis 
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 
Anaplastic astrocytoma 
Anaplastic ganglioglioma 
Anaplastic oligodendroglioma 
Andermann syndrome 
Andersen-Tawil syndrome 
Anemia sideroblastic and spinocerebellar ataxia 
Anencephaly 
Angioma hereditary neurocutaneous 
Aniridia - ptosis - intellectual disability - familial obesity 
Aniridia renal agenesis psychomotor retardation 
Antisynthetase syndrome 
Aortic arch anomaly - peculiar facies - intellectual disability 
Apraxia 
Arachnoid cysts 
Arachnoiditis 
Aromatic L-amino acid decarboxylase deficiency 
Arthrogryposis multiplex congenita, distal, X-linked 
Arthrogryposis renal dysfunction cholestasis syndrome 
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 
Arts syndrome 
Aspartylglycosaminuria 
Ataxia - hypogonadism - choroidal dystrophy 
Ataxia telangiectasia 
Ataxia with oculomotor apraxia type 1 
Ataxia with Oculomotor Apraxia Type 2 
Ataxia with oculomotor apraxia type 4 
Ataxia with vitamin E deficiency 
Atelosteogenesis type 2 
Atelosteogenesis type 3 
Athabaskan brainstem dysgenesis 
Atkin syndrome 
Atypical Rett syndrome 
Autism with port-wine stain 
Autosomal dominant centronuclear myopathy 
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy 
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons 
Autosomal dominant deafness-onychodystrophy syndrome 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth 
Autosomal dominant leukodystrophy with autonomic disease 
Autosomal dominant neuronal ceroid lipofuscinosis 4B 
Autosomal dominant nocturnal frontal lobe epilepsy 
Autosomal dominant non-syndromic intellectual disability 
Autosomal dominant optic atrophy plus syndrome 
Autosomal dominant partial epilepsy with auditory features 
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1 
Autosomal recessive axonal neuropathy with neuromyotonia 
Autosomal recessive centronuclear myopathy 
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease 
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease 
Autosomal recessive juvenile Parkinson disease 
Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis 
Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy 
Autosomal recessive primary microcephaly 
Autosomal recessive spastic ataxia 4 
Autosomal recessive spastic paraplegia type 49 
Autosomal recessive spinocerebellar ataxia 9 
B4GALT1-CDG (CDG-IId) 
Bannayan-Riley-Ruvalcaba syndrome 
Barth syndrome 
Battaglia-Neri syndrome 
Becker muscular dystrophy 
Behçet disease 
Bell's palsy 
Benign essential blepharospasm 
Benign familial neonatal epilepsy 
Benign familial neonatal-infantile seizures 
Benign hereditary chorea 
Benign rolandic epilepsy (BRE) 
Beta-Propeller Protein-Associated Neurodegeneration 
Bethlem myopathy 
Bilateral frontal polymicrogyria 
Bilateral frontoparietal polymicrogyria 
Bilateral generalized polymicrogyria 
Bilateral parasagittal parieto-occipital polymicrogyria 
Bilateral perisylvian polymicrogyria 
Binswanger's disease 
Biotin-thiamine-responsive basal ganglia disease 
Biotinidase deficiency 
Birk-Barel syndrome 
Bixler Christian Gorlin syndrome 
Blepharonasofacial malformation syndrome 
Bobble-head doll syndrome 
Bohring-Opitz syndrome 
Borjeson-Forssman-Lehmann syndrome 
Bowen-Conradi syndrome 
Brachioskeletogenital syndrome 
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 
Brain dopamine-serotonin vesicular transport disease 
Brain-lung-thyroid syndrome 
Branchial arch syndrome X-linked 
Brody myopathy 
Brooks Wisniewski Brown syndrome 
Brown-Sequard syndrome 
Bullous dystrophy hereditary macular type 
C syndrome 
Cabezas syndrome 
CADASIL 
Camptocormism 
Camptodactyly arthropathy coxa vara pericarditis syndrome 
CANOMAD syndrome 
Cantu syndrome 
Cap myopathy 
Cardiocranial syndrome 
Cardiofaciocutaneous syndrome 
Carey-Fineman-Ziter syndrome 
Carney complex 
Cataract ataxia deafness 
Catel Manzke syndrome 
Caudal appendage deafness 
Caudal regression syndrome 
Central core disease 
Central nervous system germinoma 
Central neurocytoma 
Central pain syndrome 
Central pontine myelinolysis - Not a rare disease 
Cerebellar ataxia and hypogonadotropic hypogonadism 
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 
Cerebellar degeneration 
Cerebellar hypoplasia 
Cerebellar hypoplasia tapetoretinal degeneration 
Cerebellar hypoplasia with endosteal sclerosis 
Cerebelloparenchymal disorder 3 
Cerebellum agenesis hydrocephaly 
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 
Cerebral cavernous malformation - Not a rare disease 
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 
Cerebral folate deficiency 
Cerebral gigantism jaw cysts 
Cerebral palsy - Not a rare disease 
Cerebral palsy ataxic 
Cerebral palsy athetoid 
Cerebral palsy spastic hemiplegic 
Cerebral palsy spastic monoplegic 
Cerebral palsy spastic quadriplegic 
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease 
Cerebro-facio-articular syndrome 
Cerebro-oculo-facio-skeletal syndrome 
Cerebrooculonasal syndrome 
Cerebrospinal fluid leak 
Cerebrotendinous xanthomatosis 
Ceroid lipofuscinosis neuronal 1 
Cervical hypertrichosis peripheral neuropathy 
Chanarin-Dorfman syndrome 
Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 1A 
Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 1E 
Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2B 
Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2F 
Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2P 
Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 2R 
Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 4B2 
Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease 
Chediak-Higashi syndrome 
Chiari malformation - Not a rare disease 
Chiari malformation type 1 - Not a rare disease 
Chiari malformation type 2 
Chiari malformation type 4 
Childhood apraxia of speech 
Childhood-onset cerebral X-linked adrenoleukodystrophy 
Childhood-onset nemaline myopathy 
Chorea-acanthocytosis 
Choroid plexus carcinoma 
Choroid plexus papilloma 
Christianson syndrome 
Chromosome 17p13.1 deletion syndrome 
Chromosome 17q11.2 deletion syndrome 
Chromosome 19q13.11 deletion syndrome 
Chromosome 1p36 deletion syndrome 
Chromosome 3p- syndrome 
Chronic hiccups 
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 
Chronic progressive external ophthalmoplegia 
Chudley Rozdilsky syndrome 
Cleft palate short stature vertebral anomalies 
Cluster headache - Not a rare disease 
COACH syndrome 
COASY Protein-Associated Neurodegeneration 
Coats disease 
Cobb syndrome 
Cockayne syndrome type I 
Cockayne syndrome type II 
Cockayne syndrome type III 
Coenzyme Q10 deficiency 
Coffin-Lowry syndrome 
Coffin-Siris syndrome 
COG1-CDG (CDG-IIg) 
COG4-CDG (CDG-IIj) 
COG5-CDG (CDG-IIi) 
COG7-CDG (CDG-IIe) 
COG8-CDG (CDG-IIh)