List of rare nervous system diseases

• 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
• Behavioral variant of frontotemporal dementia
• 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
• Cardiofaciocutaneous syndrome
• Carey-Fineman-Ziter syndrome
• Carney complex
• Cataract ataxia deafness
• Catel Manzke syndrome
• Caudal appendage deafness
• Caudal regression sequence
• 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)
• Cohen syndrome
• Cold-induced sweating syndrome
• Complex regional pain syndrome
• Congenital central hypoventilation syndrome
• Congenital cytomegalovirus
• Congenital fiber type disproportion
• Congenital fibrosis of extraocular muscles
• Congenital generalized lipodystrophy type 4
• Congenital insensitivity to pain
• Congenital insensitivity to pain with anhidrosis
• Congenital intrauterine infection-like syndrome
• Congenital laryngeal palsy
• Congenital mirror movement disorder
• Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy
• Congenital muscular dystrophy type 1A
• Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy
• Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
• Congenital myasthenic syndrome with episodic apnea
• Congenital rubella
• Congenital toxoplasmosis - Not a rare disease.
• Continuous spike-wave during slow sleep syndrome
• Convulsions, benign familial infantile, 1
• Corneal hypesthesia, familial
• Cornelia de Lange syndrome
• Corpus callosum agenesis double urinary collecting
• Cortical blindness-intellectual disability-polydactyly syndrome
• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• Corticobasal degeneration
• Costello syndrome
• Crane-Heise syndrome
• Craniofrontonasal dysplasia
• Craniopharyngioma
• Craniorachischisis
• Craniotelencephalic dysplasia
• CREST syndrome
• Creutzfeldt-Jakob disease
• Crome syndrome
• Curry Jones syndrome
• Cylindrical spirals myopathy
• Cyprus facial neuromusculoskeletal syndrome
• Cytomegalic inclusion disease
• D-2-hydroxyglutaric aciduria
• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Dandy-Walker like malformation with atrioventricular septal defect
• Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
• Dandy-Walker malformation with postaxial polydactyly
• Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Danon disease
• DDOST-CDG (CDG-Ir)
• DEAF1-associated disorders
• Deafness, dystonia, and cerebral hypomyelination
• Dementia familial British
• Dentatorubral-pallidoluysian atrophy
• Dermatomyositis
• Developmental dysphasia familial
• Dihydrolipoamide dehydrogenase deficiency
• Dihydropteridine reductase deficiency
• Distal myopathy with vocal cord weakness
• DOOR syndrome
• Dopa-responsive dystonia
• Dopamine beta hydroxylase deficiency
• Dopamine transporter deficiency syndrome
• DPAGT1-CDG (CDG-Ij)
• DPM1-CDG (CDG-Ie)
• DPM2-CDG
• DPM3-CDG (CDG-Io)
• Dravet syndrome
• Duane syndrome
• Duane syndrome type 1
• Duane syndrome type 2
• Duane syndrome type 3
• Dubowitz syndrome
• Duchenne muscular dystrophy
• Dykes Markes Harper syndrome
• Dysautonomia like disorder
• Dysequilibrium syndrome
• Dyskeratosis congenita
• Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita autosomal recessive
• Dyskeratosis congenita X-linked
• Dyssynergia cerebellaris myoclonica
• Dystonia 2, torsion, autosomal recessive
• DYT-PRKRA
• DYT-THAP1
• DYT-TOR1A
• DYT-TUBB4A
• DYT/PARK-GCH1
• Early Infantile Epileptic Encephalopathy
• Early infantile epileptic encephalopathy 25
• Early-onset anterior polar cataract
• Early-onset parkinsonism-intellectual disability syndrome
• Early-onset, autosomal dominant Alzheimer disease
• Eastern equine encephalitis
• Emery-Dreifuss muscular dystrophy, X-linked
• Empty sella syndrome
• Encephalitis lethargica
• Encephalocraniocutaneous lipomatosis
• Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
• Eosinophilic fasciitis
• Eosinophilic granulomatosis with polyangiitis
• Ependymoma
• Epidermolysa bullosa simplex with muscular dystrophy
• Epilepsy juvenile absence
• Epilepsy occipital calcifications
• Epilepsy progressive myoclonic type 3
• Epilepsy with myoclonic-atonic seizures
• Epiphyseal dysplasia hearing loss dysmorphism
• Episodic ataxia
• Episodic ataxia with nystagmus
• Erythromelalgia
• Essential tremor - Not a rare disease.
• Fabry disease
• Facial onset sensory and motor neuronopathy
• Facioscapulohumeral muscular dystrophy
• Fallot complex with severe mental and growth retardation
• Familial amyloidosis, Finnish type
• Familial bilateral striatal necrosis
• Familial caudal dysgenesis
• Familial congenital palsy of trochlear nerve
• Familial dysautonomia
• Familial encephalopathy with neuroserpin inclusion bodies
• Familial exudative vitreoretinopathy
• Familial focal epilepsy with variable foci
• Familial hemiplegic migraine
• Familial hemiplegic migraine type 1
• Familial hemiplegic migraine type 2
• Familial hemiplegic migraine type 3
• Familial porencephaly
• Familial transthyretin amyloidosis
• Farber's disease
• Fatal familial insomnia
• Fatal infantile encephalomyopathy
• Fatty acid hydroxylase-associated neurodegeneration
• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Febrile infection-related epilepsy syndrome
• Feigenbaum Bergeron Richardson syndrome
• Filippi syndrome
• Fine-Lubinsky syndrome
• Fingerprint body myopathy
• Fitzsimmons Walson Mellor syndrome
• Fitzsimmons-Guilbert syndrome
• Floating-Harbor syndrome
• Flynn Aird syndrome
• Focal dermal hypoplasia
• Focal segmental glomerulosclerosis
• Fountain syndrome
• FOXG1 syndrome
• Fragile X syndrome
• Fragile XE syndrome
• Friedreich ataxia
• Frontometaphyseal dysplasia
• Frontotemporal dementia
• Fryns syndrome
• Fucosidosis
• Fukuyama type muscular dystrophy
• Fumarase deficiency
• Galactosialidosis
• Galloway-Mowat syndrome
• Gamma aminobutyric acid transaminase deficiency
• Gangliocytoma
• GAPO syndrome
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Gemignani syndrome
• Genitopatellar syndrome
• Genoa syndrome
• Gerstmann syndrome
• Gerstmann-Straussler-Scheinker disease
• Giant axonal neuropathy
• Gillespie syndrome
• Gliomatosis cerebri
• Glucose transporter type 1 deficiency syndrome
• Glutamine deficiency, congenital
• Glutaric acidemia type I
• Glutaric acidemia type II
• Glutaric acidemia type III
• Glycogen storage disease type 13
• Glycogen storage disease type 2
• Glycogen storage disease type 3
• Glycogen storage disease type 4
• Glycogen storage disease type 5
• Glycogen storage disease type 7
• GM1 gangliosidosis type 1
• GM1 gangliosidosis type 2
• GM1 gangliosidosis type 3
• GM3 synthase deficiency
• GMS syndrome
• Goldberg-Shprintzen megacolon syndrome
• Gomez Lopez Hernandez syndrome
• GOSR2-related progressive myoclonus ataxia
• Graham-Cox syndrome
• Granulomatosis with polyangiitis
• Griscelli syndrome type 1
• Grubben de Cock Borghgraef syndrome
• GTP cyclohydrolase I deficiency
• Guanidinoacetate methyltransferase deficiency
• Guillain-Barre syndrome
• Gurrieri syndrome
• Gyrate atrophy of choroid and retina
• Hair defect-photosensitivity-intellectual disability syndrome
• Hall-Riggs syndrome
• Hallermann-Streiff syndrome
• Hamanishi Ueba Tsuji syndrome
• Hansen's disease
• Harding ataxia
• Harlequin syndrome
• Harrod Doman Keele syndrome
• Hartnup disease
• Hashimoto encephalopathy
• Hemangioblastoma
• Hemicrania continua
• Hemimegalencephaly
• Hemiplegic migraine
• Hemophagocytic lymphohistiocytosis
• Hennekam syndrome
• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hereditary coproporphyria
• Hereditary diffuse leukoencephalopathy with spheroids
• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary geniospasm
• Hereditary hemorrhagic telangiectasia
• Hereditary hemorrhagic telangiectasia type 2
• Hereditary hemorrhagic telangiectasia type 3
• Hereditary hemorrhagic telangiectasia type 4
• Hereditary hyperekplexia
• Hereditary motor and sensory neuropathy type 5
• Hereditary neuropathy with liability to pressure palsies
• Hereditary proximal myopathy with early respiratory failure
• Hereditary sensorimotor neuropathy with hyperelastic skin
• Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory and autonomic neuropathy type 2
• Hereditary sensory and autonomic neuropathy type 7
• Hereditary sensory and autonomic neuropathy type V
• Hereditary sensory neuropathy type 1
• Hereditary spastic paraplegia
• Hereditary vascular retinopathy
• Hernández-Aguirre Negrete syndrome
• Herpes simplex encephalitis
• Herpes zoster oticus
• HIBCH deficiency
• Homocystinuria due to CBS deficiency
• Homocystinuria due to MTHFR deficiency
• Horizontal gaze palsy with progressive scoliosis
• Hoyeraal Hreidarsson syndrome
• HTLV-1 associated myelopathy/tropical spastic paraparesis
• Huntington disease
• Hurler syndrome
• Hurler–Scheie syndrome
• Hydranencephaly
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• Hydrocephalus-cleft palate-joint contractures syndrome
• Hydroxykynureninuria
• Hyperbetaalaninemia
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Hyperkalemic periodic paralysis
• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Hyperphenylalaninemia due to dehydratase deficiency
• Hyperprolinemia
• Hyperprolinemia type 2
• Hypertrophic neuropathy of Dejerine-Sottas
• Hypocalcemia, autosomal dominant
• Hypokalemic periodic paralysis
• Hypomelanosis of Ito
• Hypomyelination and congenital cataract
• Hypomyelination with atrophy of basal ganglia and cerebellum
• Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypothalamic hamartomas
• Ichthyosis alopecia eclabion ectropion mental retardation
• Idiopathic intracranial hypertension
• Idiopathic spinal cord herniation
• Inclusion body myopathy 2
• Inclusion body myopathy 3
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Inclusion body myositis
• Incontinentia pigmenti
• Infantile axonal neuropathy
• Infantile cerebellar retinal degeneration
• Infantile choroidocerebral calcification syndrome
• Infantile convulsions and paroxysmal choreoathetosis, familial
• Infantile myofibromatosis
• Infantile neuroaxonal dystrophy
• Infantile onset spinocerebellar ataxia
• Infantile spasms broad thumbs
• Infantile-onset ascending hereditary spastic paralysis
• Infection-induced acute encephalopathy 3
• Intellectual deficit - short stature - hypertelorism
• Intellectual deficit Buenos-Aires type
• Intellectual disability - athetosis - microphthalmia
• Intellectual disability - hypoplastic corpus callosum - preauricular tag
• Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
• Intellectual disability-developmental delay-contractures syndrome
• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
• Intellectual disability-severe speech delay-mild dysmorphism syndrome
• Intellectual disability-spasticity-ectrodactyly syndrome
• Intermediate congenital nemaline myopathy
• Internal carotid agenesis
• Intraneural perineurioma
• IRVAN syndrome
• Isaacs' syndrome
• Isodicentric chromosome 15 syndrome
• Johanson-Blizzard syndrome
• Johnson neuroectodermal syndrome
• Joubert syndrome
• Joubert syndrome with oculorenal anomalies
• Juberg Marsidi syndrome
• Juvenile amyotrophic lateral sclerosis
• Juvenile dermatomyositis
• Juvenile Huntington disease
• Juvenile polymyositis
• Juvenile primary lateral sclerosis
• Kabuki syndrome
• Kanzaki disease
• Kapur Toriello syndrome
• Kaufman oculocerebrofacial syndrome
• KBG syndrome
• KCNQ2-Related Disorders
• Kearns-Sayre syndrome
• Kennedy disease
• Keratosis follicularis dwarfism and cerebral atrophy
• Kernicterus
• Keutel syndrome
• King Denborough syndrome
• Kleine Levin syndrome
• Klumpke paralysis
• Kosztolanyi syndrome
• Kozlowski-Krajewska syndrome
• Kuru
• Kuzniecky Andermann syndrome
• L-2-hydroxyglutaric aciduria
• L-arginine:glycine amidinotransferase deficiency
• La Crosse encephalitis
• Laband syndrome
• Lafora disease
• Laing distal myopathy
• Lambert Eaton myasthenic syndrome
• Landau-Kleffner syndrome
• Late-onset distal myopathy, Markesbery-Griggs type
• Lateral meningocele syndrome
• Laurence-Moon syndrome
• LCHAD deficiency
• Leber hereditary optic neuropathy with dystonia
• Leigh syndrome, French Canadian type
• Lennox-Gastaut syndrome
• Lenz Majewski hyperostotic dwarfism
• Lenz microphthalmia syndrome
• Lesch Nyhan syndrome
• Leukodystrophy
• Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
• Leukoencephalopathy - dystonia - motor neuropathy
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Levic Stefanovic Nikolic syndrome
• Lewis-Sumner syndrome
• Lhermitte-Duclos disease
• Li-Fraumeni syndrome
• Limb-girdle muscular dystrophy type 1A
• Limb-girdle muscular dystrophy type 1B
• Limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2A
• Limb-girdle muscular dystrophy type 2B
• Limb-girdle muscular dystrophy type 2E
• Limb-girdle muscular dystrophy type 2F
• Limb-girdle muscular dystrophy type 2H
• Limb-girdle muscular dystrophy type 2I
• Limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A
• Limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy
• Limb-girdle muscular dystrophy, type 2C
• Limb-girdle muscular dystrophy, type 2D
• Limb-girdle muscular dystrophy, type 2G
• Limbic encephalitis with LGI1 antibodies
• Limited cutaneous systemic sclerosis
• Lipoic acid synthetase deficiency
• Lissencephaly 1
• Lissencephaly 2
• Lissencephaly X-linked
• Localized hypertrophic neuropathy
• Locked-in syndrome
• Logopenic progressive aphasia
• Lowe oculocerebrorenal syndrome
• Lowry Maclean syndrome
• Lujan syndrome
• Lyme disease - Not a rare disease.
• Mac Dermot Winter syndrome
• Macrocephaly-short stature-paraplegia syndrome
• Macrothrombocytopenia progressive deafness
• Mal de debarquement syndrome
• Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Malignant hyperthermia
• Malignant hyperthermia arthrogryposis torticollis
• Malignant hyperthermia susceptibility type 1
• Malignant hyperthermia susceptibility type 2
• Malignant hyperthermia susceptibility type 3
• Malignant hyperthermia susceptibility type 4
• Malignant hyperthermia susceptibility type 5
• Malignant hyperthermia susceptibility type 6
• Malignant migrating partial seizures of infancy
• MAN1B1-CDG
• Mandibulofacial dysostosis with microcephaly
• Mannosidosis, beta A, lysosomal
• Marchiafava Bignami disease
• Marden-Walker syndrome
• Marfanoid habitus-autosomal recessive intellectual disability syndrome
• Marinesco-Sjogren syndrome
• Martsolf syndrome
• McDonough syndrome
• McLeod neuroacanthocytosis syndrome
• Meckel syndrome
• MECP2 duplication syndrome
• Medrano Roldan syndrome
• Medulloblastoma
• Megalencephalic leukoencephalopathy with subcortical cysts
• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
• Megaloblastic anemia due to dihydrofolate reductase deficiency
• Megalocornea-intellectual disability syndrome
• Mehes syndrome
• Meier-Gorlin syndrome
• Meige syndrome
• Melnick-Needles syndrome
• Meningioma
• Menkes disease
• Mental retardation skeletal dysplasia abducens palsy
• Mental retardation Smith Fineman Myers type
• Mental retardation X-linked syndromic 7
• Meralgia paresthetica
• Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
• Methionine adenosyltransferase deficiency
• Methylcobalamin deficiency cbl G type
• Methylmalonic acidemia with homocystinuria type cblC
• MGAT2-CDG (CDG-IIa)
• Micro syndrome
• Microbrachycephaly ptosis cleft lip
• Microcephalic osteodysplastic primordial dwarfism type 1
• Microcephalic osteodysplastic primordial dwarfism type 2
• Microcephalic primordial dwarfism Toriello type
• Microcephalic primordial dwarfism, Montreal type
• Microcephaly
• Microcephaly autosomal dominant
• Microcephaly brain defect spasticity hypernatremia
• Microcephaly cervical spine fusion anomalies
• Microcephaly deafness syndrome
• Microcephaly glomerulonephritis Marfanoid habitus
• Microcephaly microcornea syndrome Seemanova type
• Microcephaly pontocerebellar hypoplasia dyskinesia
• Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy
• Microcephaly-cardiomyopathy
• Microduplication Xp11.22-p11.23 syndrome
• Microphthalmia syndromic 10
• Microphthalmia syndromic 4
• Microphthalmia syndromic 8
• Microphthalmia with linear skin defects syndrome
• Microscopic polyangiitis
• Migraine with brainstem aura
• Mild phenylketonuria
• Miller-Dieker syndrome
• Miller-Fisher syndrome
• Minicore myopathy with external ophthalmoplegia
• Mitochondrial complex I deficiency
• Mitochondrial complex II deficiency
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial DNA-associated Leigh syndrome
• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
• Mitochondrial Membrane Protein-Associated Neurodegeneration
• Mitochondrial myopathy with diabetes
• Mitochondrial myopathy with lactic acidosis
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Mitochondrial trifunctional protein deficiency
• Mixed connective tissue disease
• Miyoshi myopathy
• Moebius syndrome
• MOGS-CDG (CDG-IIb)
• Mohr-Tranebjaerg syndrome
• Molybdenum cofactor deficiency
• Monoamine oxidase A deficiency
• Morse-Rawnsley-Sargent syndrome
• Morvan's fibrillary chorea
• Mousa Al din Al Nassar syndrome
• Moyamoya disease
• MPDU1-CDG (CDG-If)
• MPI-CDG (CDG-Ib)
• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Mucolipidosis type 4
• Mucopolysaccharidosis type III
• Mucopolysaccharidosis type IIIA
• Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type IIIC
• Mucopolysaccharidosis type IIID
• Multifocal motor neuropathy
• Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Multiple myeloma
• Multiple sulfatase deficiency
• Multiple system atrophy
• Multisystemic smooth muscle dysfunction syndrome
• Muscle eye brain disease
• Muscular dystrophy white matter spongiosis
• Muscular dystrophy, congenital, megaconial type
• Muscular phosphorylase kinase deficiency
• Musculocontractural Ehlers-Danlos syndrome
• Myasthenia gravis
• Myelocerebellar disorder
• Myelomeningocele
• MYH7-related scapuloperoneal myopathy
• Myhre syndrome
• Myoclonic epilepsy with ragged red fibers
• Myoclonus cerebellar ataxia deafness
• Myoclonus hereditary progressive distal muscular atrophy
• Myoclonus-dystonia
• Myoglobinuria recurrent
• Myopathy with extrapyramidal signs
• Myosin storage myopathy
• Myotonia congenita
• Myotonic dystrophy type 1
• Myotonic dystrophy type 2
• N syndrome
• Nance-Horan syndrome
• Narcolepsy
• Native American myopathy
• NBIA/DYT/PARK-PLA2G6
• Necrotizing autoimmune myopathy
• Neonatal adrenoleukodystrophy
• Neonatal meningitis
• Neonatal progeroid syndrome
• Neu Laxova syndrome
• Neuroblastoma
• Neurocutaneous melanosis
• Neurofaciodigitorenal syndrome
• Neuroferritinopathy
• Neurofibromatosis type 1
• Neurofibromatosis type 2
• Neuroleptic malignant syndrome
• Neuromyelitis optica
• Neuromyelitis optica spectrum disorder
• Neuronal ceroid lipofuscinosis
• Neuronal ceroid lipofuscinosis 10
• Neuronal ceroid lipofuscinosis 2
• Neuronal ceroid lipofuscinosis 3
• Neuronal ceroid lipofuscinosis 5
• Neuronal ceroid lipofuscinosis 6
• Neuronal ceroid lipofuscinosis 7
• Neuronal ceroid lipofuscinosis 9
• Neuronal intranuclear inclusion disease
• Neuropathy ataxia retinitis pigmentosa syndrome
• Neuropathy, distal hereditary motor, Jerash type
• Neuropathy, hereditary motor and sensory, Okinawa type
• Neuropathy, hereditary motor and sensory, Russe type
• Neutral lipid storage disease with myopathy
• Nevoid basal cell carcinoma syndrome
• New-onset refractory status epilepticus
• Nicolaides-Baraitser syndrome
• Niemann-Pick disease type A
• Niemann-Pick disease type B
• Niemann-Pick disease type C1
• Niemann-Pick disease type C2
• Non 24 hour sleep wake disorder
• Nondystrophic myotonia
• Noonan syndrome
• Norrie disease
• Northern epilepsy
• Oculocerebrocutaneous syndrome
• Oculofaciocardiodental syndrome
• Oculopharyngeal muscular dystrophy
• Oculopharyngodistal myopathy
• Okamoto syndrome
• Olfactory neuroblastoma
• Oligoastrocytoma
• Oligodendroglioma
• Oliver syndrome
• Olivopontocerebellar atrophy
• Omphalocele cleft palate syndrome lethal
• OPHN1 syndrome
• Opsoclonus-myoclonus syndrome
• Optic atrophy 2
• Optic pathway glioma
• Ornithine transcarbamylase deficiency
• Orofaciodigital syndrome 1
• Orofaciodigital syndrome 10
• Orofaciodigital syndrome 2
• Orofaciodigital syndrome 3
• Orofaciodigital syndrome 4
• Orofaciodigital syndrome 5
• Orofaciodigital syndrome 6
• Orthostatic intolerance due to NET deficiency
• Osteopenia and sparse hair
• Osteoporosis-pseudoglioma syndrome
• Oto-palato-digital syndrome type 1
• Oto-palato-digital syndrome type 2
• Ouvrier Billson syndrome
• Pachygyria-intellectual disability-epilepsy syndrome
• PACS1-related syndrome
• Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
• Pallidopyramidal syndrome
• Pallister W syndrome
• Pallister-Killian mosaic syndrome
• Pantothenate kinase-associated neurodegeneration
• Paralysis agitans, juvenile, of Hunt
• Paramyotonia congenita
• Parkinson disease type 3
• Parkinson disease type 9
• Paroxysmal exertion-induced dyskinesia
• Paroxysmal extreme pain disorder
• Paroxysmal hemicrania
• Paroxysmal kinesigenic choreoathetosis
• Paroxysomal nonkinesigenic dyskinesia
• Parsonage Turner syndrome
• Partington syndrome
• PCDH19-related female-limited epilepsy
• Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
• PEHO syndrome
• Pelizaeus-Merzbacher disease
• Periventricular heterotopia
• Periventricular leukomalacia
• Perry syndrome
• Peters plus syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Palm Teller syndrome
• Pfeiffer-type cardiocranial syndrome
• PGM3-CDG
• PHACE syndrome
• Phosphoglycerate kinase deficiency
• Phosphoglycerate mutase deficiency
• Phosphoserine aminotransferase deficiency
• Photosensitive epilepsy
• Pitt-Hopkins syndrome
• Pitt-Hopkins-like syndrome
• Plasmacytoma
• Pleomorphic xanthoastrocytoma
• PMM2-CDG (CDG-Ia)
• POEMS syndrome
• Poliomyelitis
• POLR3-Related Leukodystrophy
• Polyarteritis nodosa
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Pontine tegmental cap dysplasia
• Pontocerebellar hypoplasia
• Pontocerebellar hypoplasia type 1
• Pontocerebellar hypoplasia type 2
• Pontocerebellar hypoplasia type 3
• Pontocerebellar hypoplasia type 4
• Pontocerebellar hypoplasia type 5
• Pontocerebellar hypoplasia type 6
• Post Polio syndrome
• Posterior column ataxia
• Posterior column ataxia with retinitis pigmentosa
• Postnatal progressive microcephaly, seizures, and brain atrophy
• Potassium aggravated myotonia
• Potocki-Lupski syndrome
• PPM-X syndrome
• Prader-Willi habitus, osteopenia, and camptodactyly
• Primary amebic meningoencephalitis
• Primary angiitis of the central nervous system
• Primary basilar impression
• Primary carnitine deficiency
• Primary central nervous system lymphoma
• Primary Familial Brain Calcification
• Primary lateral sclerosis
• Primary melanoma of the central nervous system
• Primary orthostatic tremor
• Primary progressive aphasia
• Primrose syndrome
• Progressive bulbar palsy
• Progressive encephalomyelitis with rigidity and myoclonus
• Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive hemifacial atrophy
• Progressive non-fluent aphasia
• Prolidase deficiency
• Proteus syndrome
• Proud syndrome
• Pseudoaminopterin syndrome
• Pseudocholinesterase deficiency
• Pseudoneonatal adrenoleukodystrophy
• Pseudoprogeria syndrome
• Pseudotrisomy 13 syndrome
• Pseudoxanthoma elasticum
• Pterygium colli mental retardation digital anomalies
• Pudendal Neuralgia
• Pure autonomic failure
• Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine-dependent epilepsy
• Pyruvate dehydrogenase phosphatase deficiency
• Qazi Markouizos syndrome
• Radiation induced brachial plexopathy
• Ramos Arroyo Clark syndrome
• Rapid-onset dystonia-parkinsonism
• Rasmussen encephalitis
• Reardon Wilson Cavanagh syndrome
• Reducing body myopathy
• Refsum disease
• Refsum disease, infantile form
• Renal dysplasia-limb defects syndrome
• Renier Gabreels Jasper syndrome
• Restless legs syndrome, susceptibility to, 1 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 2 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 3 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 4 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 5 - See Restless legs syndrome
• Restless legs syndrome, susceptibility to, 6 - See Restless legs syndrome
• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Retinal vasculopathy with cerebral leukodystrophy
• Rett syndrome
• Reversible cerebral vasoconstriction syndrome
• RFT1-CDG (CDG-In)
• Rhabdoid tumor
• Rhizomelic chondrodysplasia punctata type 1
• Riboflavin transporter deficiency
• Richards-Rundle syndrome
• Richieri Costa Da Silva syndrome
• Rigid spine syndrome
• Ring chromosome 10
• Ring chromosome 14
• Ring chromosome 20
• Rippling muscle disease
• RNAse T2-deficient leukoencephalopathy
• Roussy Levy syndrome
• RRM2B-related mitochondrial DNA depletion syndrome
• Ruvalcaba syndrome
• Salla disease - See Free sialic acid storage disease
• Sandhoff disease
• Sandifer syndrome
• Sarcoidosis - Not a rare disease.
• Say Barber Miller syndrome
• Say Meyer syndrome
• Scapuloperoneal syndrome, neurogenic, Kaeser type
• SCARF syndrome
• Schaaf-Yang syndrome
• Scheie syndrome
• Schimke immunoosseous dysplasia
• Schindler disease type 1
• Schinzel Giedion syndrome
• Schisis association
• Schizencephaly
• Schwannomatosis
• Schwartz Jampel syndrome
• Scott Bryant Graham syndrome
• Seaver Cassidy syndrome
• Seckel syndrome
• Semantic dementia
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Sepiapterin reductase deficiency
• Septo-optic dysplasia spectrum
• SeSAME syndrome
• SETBP1 disorder
• Severe congenital nemaline myopathy
• Severe intellectual disability-progressive spastic diplegia syndrome
• Severe X-linked intellectual disability, Gustavson type
• Shapiro syndrome
• Short-chain acyl-CoA dehydrogenase deficiency
• Shoulder girdle defect mental retardation familial
• Shprintzen omphalocele syndrome
• Shprintzen-Goldberg craniosynostosis syndrome
• Sialidosis type I
• Sialidosis, type II
• Sickle cell anemia
• Sideroblastic anemia and mitochondrial myopathy
• Simpson-Golabi-Behmel syndrome
• Single upper central incisor
• Sjogren-Larsson syndrome
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• Slow-channel congenital myasthenic syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Sneddon syndrome
• Snyder-Robinson syndrome
• Sonoda syndrome
• Spasmodic dysphonia
• Spastic ataxia Charlevoix-Saguenay type
• Spastic diplegia cerebral palsy
• Spastic diplegia infantile type
• Spastic paraplegia 1
• Spastic paraplegia 10
• Spastic paraplegia 11
• Spastic paraplegia 12
• Spastic paraplegia 13
• Spastic paraplegia 14
• Spastic paraplegia 15
• Spastic paraplegia 16
• Spastic paraplegia 17
• Spastic paraplegia 18
• Spastic paraplegia 19
• Spastic paraplegia 2
• Spastic paraplegia 23
• Spastic paraplegia 24
• Spastic paraplegia 25
• Spastic paraplegia 26
• Spastic paraplegia 29
• Spastic paraplegia 3
• Spastic paraplegia 31
• Spastic paraplegia 32
• Spastic paraplegia 39
• Spastic paraplegia 4
• Spastic paraplegia 51
• Spastic paraplegia 5A
• Spastic paraplegia 6
• Spastic paraplegia 7
• Spastic paraplegia 8
• Spastic paraplegia 9
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia-epilepsy-intellectual disability syndrome
• Spastic paraplegia-glaucoma-intellectual disability syndrome
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spina bifida occulta - Not a rare disease.
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal meningioma
• Spinal muscular atrophy 1
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal shock
• Spinocerebellar ataxia
• Spinocerebellar ataxia 1
• Spinocerebellar ataxia 10
• Spinocerebellar ataxia 11
• Spinocerebellar ataxia 12
• Spinocerebellar ataxia 13
• Spinocerebellar ataxia 14
• Spinocerebellar ataxia 15
• Spinocerebellar ataxia 17
• Spinocerebellar ataxia 18
• Spinocerebellar ataxia 19 and 22
• Spinocerebellar ataxia 2
• Spinocerebellar ataxia 20
• Spinocerebellar ataxia 21
• Spinocerebellar ataxia 23
• Spinocerebellar ataxia 25
• Spinocerebellar ataxia 26
• Spinocerebellar ataxia 27
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia 29
• Spinocerebellar ataxia 3
• Spinocerebellar ataxia 30
• Spinocerebellar ataxia 31
• Spinocerebellar ataxia 34
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 5
• Spinocerebellar ataxia 7
• Spinocerebellar ataxia 8
• Spinocerebellar ataxia 9
• Spinocerebellar ataxia autosomal recessive 3
• Spinocerebellar ataxia autosomal recessive 4
• Spinocerebellar ataxia autosomal recessive 5
• Spinocerebellar ataxia autosomal recessive 6
• Spinocerebellar ataxia autosomal recessive 7
• Spinocerebellar ataxia autosomal recessive 8
• Spinocerebellar ataxia autosomal recessive with axonal neuropathy
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia with dysmorphism
• Spinocerebellar ataxia X-linked type 2
• Spinocerebellar ataxia X-linked type 3
• Spinocerebellar ataxia X-linked type 4
• Spinocerebellar degeneration and corneal dystrophy
• Split hand urinary anomalies spina bifida
• Split spinal cord malformation
• Spondyloepiphyseal dysplasia congenita
• SRD5A3-CDG (CDG-Iq)
• SSR4-CDG
• Status epilepticus
• Steinfeld syndrome
• Stiff person syndrome
• Stocco dos Santos syndrome
• Striatonigral degeneration infantile
• Sturge-Weber syndrome
• Subacute sclerosing panencephalitis
• Subcortical band heterotopia
• Subependymal giant cell astrocytoma
• Subependymoma
• Succinic semialdehyde dehydrogenase deficiency
• Susac syndrome
• Symmetrical thalamic calcifications
• Tangier disease
• TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• Tarlov cysts
• Tay-Sachs disease
• Tel Hashomer camptodactyly syndrome
• Telfer Sugar Jaeger syndrome
• Temple syndrome
• Temple-Baraitser syndrome
• Temporal epilepsy, familial
• Temtamy syndrome
• Tethered cord syndrome
• Thalamic degeneration symmetrical infantile
• Thalamic degeneration, symmetric infantile
• Thoracic dysplasia hydrocephalus syndrome
• Thoracic outlet syndromes - Not a rare disease.
• Thyrotoxic periodic paralysis
• TMEM165-CDG (CDG-IIk)
• Toriello-Carey syndrome
• Tourette syndrome - Not a rare disease.
• Tranebjaerg Svejgaard syndrome
• Transverse myelitis
• Trichinosis
• Trichorhinophalangeal syndrome type 2
• Trigeminal neuralgia
• Triosephosphate isomerase deficiency
• Triple A syndrome
• Troyer syndrome
• Tuberous sclerosis
• Tubular aggregate myopathy
• Tumefactive multiple sclerosis
• Typical congenital nemaline myopathy
• Tyrosine hydroxylase deficiency
• Tyrosinemia type 1
• Ullrich congenital muscular dystrophy
• Unverricht-Lundborg disease
• Van Benthem-Driessen-Hanveld syndrome
• Van Den Bosch syndrome
• Variant Creutzfeldt-Jakob disease
• Variegate porphyria
• Vein of Galen aneurysm
• Vici syndrome
• Viljoen Kallis Voges syndrome
• Visual snow syndrome
• VLCAD deficiency
• Vogt-Koyanagi-Harada disease
• Von Hippel-Lindau disease
• Walker-Warburg syndrome
• Weaver syndrome
• Welander distal myopathy, Swedish type
• Wernicke-Korsakoff syndrome
• West syndrome
• Whipple disease
• White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
• Wiedemann Oldigs Oppermann syndrome
• Williams syndrome
• Wilson disease
• Wilson-Turner syndrome
• Wolf-Hirschhorn syndrome
• Wolman disease
• Woodhouse Sakati syndrome
• Worster Drought syndrome
• Wrinkly skin syndrome
• Wyburn-Mason syndrome
• X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
• X-linked complicated corpus callosum agenesis - See L1 syndrome
• X-linked complicated spastic paraplegia type 1 - See L1 syndrome
• X-linked creatine deficiency
• X-linked dystonia-parkinsonism/Lubag
• X-linked hereditary sensory and autonomic neuropathy with deafness
• X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
• X-linked intellectual disability - short stature – obesity
• X-linked intellectual disability, Najm type
• X-linked intellectual disability, Schimke type
• X-linked intellectual disability, Siderius type
• X-linked intellectual disability, Turner type
• X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• X-linked intellectual disability-plagiocephaly syndrome
• X-linked lissencephaly with abnormal genitalia
• X-linked myopathy with excessive autophagy
• X-linked myotubular myopathy
• X-linked non-specific intellectual disability
• X-linked periventricular heterotopia
• Xeroderma pigmentosum
• Xia-Gibbs syndrome
• XK aprosencephaly
• Zechi Ceide syndrome
• Zellweger syndrome
• ZTTK syndrome

NIH genetic and rare disease info

• NIH info on List of rare nervous system diseases

List of rare nervous system diseases is a rare disease.