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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Nervous System Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 15q13.3 microdeletion syndrome
* 2-methyl-3-hydroxybutyric aciduria
* 2-methylbutyryl-CoA dehydrogenase deficiency
* 22q11.2 deletion syndrome
* 22q13.3 deletion syndrome
* 2q37 deletion syndrome
* 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 48,XYYY
* 49,XXXXY syndrome
* 6-pyruvoyl-tetrahydropterin synthase deficiency
* Aarskog syndrome
* Aase-Smith syndrome
* Abetalipoproteinemia
* Absence of septum pellucidum
* Acanthocytosis
* Aceruloplasminemia
* Acrocallosal syndrome, Schinzel type
* Acrofacial dysostosis Catania type
* Acrofacial dysostosis Rodriguez type
* Acute cholinergic dysautonomia
* Acute disseminated encephalomyelitis
* Adenosine monophosphate deaminase 1 deficiency
* Adenylosuccinase deficiency
* Adie syndrome
* Adrenomyeloneuropathy
* Advanced sleep phase syndrome, familial
* AGAT deficiency
* 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 contractures dwarfism mental retardation
* Alopecia epilepsy oligophrenia syndrome of Moynahan
* Alopecia mental retardation syndrome 1
* Alopecia, epilepsy, pyorrhea, mental subnormality
* Alpers syndrome
* Alpha-ketoglutarate dehydrogenase deficiency
* Alpha-mannosidosis type 1
* Alpha-thalassemia x-linked intellectual disability syndrome
* Alternating hemiplegia of childhood
* Alzheimer disease type 4
* Alzheimer's disease without neurofibrillary tangles
* Aminoacylase 1 deficiency
* Amish infantile epilepsy syndrome
* Amish lethal microcephaly
* Amyloid neuropathy
* Amyopathic dermatomyositis
* Amyotrophic lateral sclerosis
* Amyotrophic lateral sclerosis type 6
* Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
* Anaplastic ganglioglioma
* Andermann syndrome
* Andersen-Tawil syndrome
* Anencephaly
* Angioma hereditary neurocutaneous
* Aniridia renal agenesis psychomotor retardation
* Apraxia
* Arachnoid cysts
* Arachnoiditis
* Aromatic 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 telangiectasia
* 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 cerebellar ataxia, deafness, and narcolepsy
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
* Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Autosomal dominant optic atrophy plus syndrome
* Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal dominant partial epilepsy with auditory features
* Autosomal recessive axonal neuropathy with neuromyotonia
* Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
* Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
* Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
* Autosomal recessive juvenile Parkinson disease
* Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal recessive spastic ataxia 4
* B4GALT1-CDG (CDG-IId)
* Bannayan-Riley-Ruvalcaba syndrome
* Barth syndrome
* Basal ganglia disease, biotin-responsive
* Basilar migraine
* Battaglia-Neri syndrome
* Batten disease
* Becker muscular dystrophy
* Behcet's disease
* Bell's palsy
* Benign familial neonatal-infantile seizures
* Benign hereditary chorea
* Benign rolandic epilepsy (BRE)
* Bethlem myopathy
* Bilateral frontal polymicrogyria
* Bilateral frontoparietal polymicrogyria
* Bilateral generalized polymicrogyria
* Bilateral parasagittal parieto-occipital polymicrogyria
* Bilateral perisylvian polymicrogyria
* Binswanger's disease
* Biotinidase deficiency
* Birk-Barel syndrome
* Bixler Christian Gorlin syndrome
* Blepharonasofacial malformation syndrome
* Blepharospasm
* Bobble-head doll syndrome
* Borjeson-Forssman-Lehmann syndrome
* Boucher Neuhauser syndrome
* Bowen-Conradi syndrome
* Branchial arch syndrome X-linked
* Brody myopathy
* Brooks Wisniewski Brown syndrome
* Brown-Sequard syndrome
* Brown-Vialetto-Van Laere syndrome
* Bullous dystrophy hereditary macular type
* C syndrome
* C-like syndrome
* CADASIL
* CAHMR syndrome
* Camptodactyly arthropathy coxa vara pericarditis syndrome
* CANOMAD syndrome
* Cantu syndrome
* Cap myopathy
* Cardiocranial syndrome
* Cardiofaciocutaneous syndrome
* Carney complex
* Cataract anterior polar dominant
* Cataract ataxia deafness
* Catel Manzke syndrome
* Caudal appendage deafness
* Caudal regression syndrome
* Central core disease
* Central neurocytoma
*   Central pontine myelinolysis
* Central post-stroke pain
* 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
* Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
* Cerebral folate deficiency
* Cerebral gigantism jaw cysts
* Cerebral palsy
* 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-oculo-facio-skeletal syndrome
* Cerebrospinal fluid leak
* Cerebrotendinous xanthomatosis
* Ceroid lipofuscinosis neuronal 1
* Ceroid lipofuscinosis neuronal 10
* Ceroid lipofuscinosis neuronal 2
* Ceroid lipofuscinosis neuronal 5
* Ceroid lipofuscinosis neuronal 6
* Ceroid lipofuscinosis neuronal 7
* Ceroid lipofuscinosis neuronal 9
* Cervical hypertrichosis peripheral neuropathy
* Chanarin-Dorfman syndrome
* Charcot-Marie-Tooth disease
* Charcot-Marie-Tooth disease type 1A
* Charcot-Marie-Tooth disease type 1B
* Charcot-Marie-Tooth disease type 1C
* Charcot-Marie-Tooth disease type 1D
* Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth disease type 1F
* Charcot-Marie-Tooth disease type 2B
* Charcot-Marie-Tooth disease type 2B1
* Charcot-Marie-Tooth disease type 2B2
* Charcot-Marie-Tooth disease type 2D
* Charcot-Marie-Tooth disease type 2E
* Charcot-Marie-Tooth disease type 2F
* Charcot-Marie-Tooth disease type 2G
* Charcot-Marie-Tooth disease type 2H
* Charcot-Marie-Tooth disease type 2H
* Charcot-Marie-Tooth disease type 2I
* Charcot-Marie-Tooth disease type 2J
* Charcot-Marie-Tooth disease type 2K
* Charcot-Marie-Tooth disease type 2N
* Charcot-Marie-Tooth disease type 2O
* Charcot-Marie-Tooth disease type 2P
* Charcot-Marie-Tooth disease type 2Q
* Charcot-Marie-Tooth disease type 2R
* Charcot-Marie-Tooth disease type 4A
* Charcot-Marie-Tooth disease type 4B1
* Charcot-Marie-Tooth disease type 4B2
* Charcot-Marie-Tooth disease type 4C
* Charcot-Marie-Tooth disease type 4D
* Charcot-Marie-Tooth disease type 4E
* Charcot-Marie-Tooth disease type 4H
* Chediak-Higashi syndrome
*   Chiari malformation
*   Chiari malformation type 1
* Chiari malformation type 2
* Chiari malformation type 4
* Childhood-onset cerebral X-linked adrenoleukodystrophy
* Choreoacanthocytosis
* Choroid plexus carcinoma
* Choroid plexus papilloma
* Christianson syndrome
* Chromosome 17p13.1 deletion syndrome
* Chromosome 19q13.11 deletion syndrome
* Chromosome 1p36 deletion syndrome
* Chromosome 3p- syndrome
* Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
* Chronic progressive external ophthalmoplegia
* Chudley Rozdilsky syndrome
* Churg Strauss syndrome
* Cleft palate short stature vertebral anomalies
*   Cluster headache
* COACH syndrome
* 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
* Complex regional pain syndrome
* Congenital central hypoventilation syndrome
* Congenital cytomegalovirus
* Congenital fiber type disproportion
* Congenital generalized lipodystrophy type 4
* Congenital insensitivity to pain with anhidrosis
* Congenital intrauterine infection-like syndrome
* Congenital muscular dystrophy type 1A
* Congenital myasthenic syndrome with episodic apnea
* Congenital rubella
*   Congenital toxoplasmosis
* Convulsions, benign familial infantile, 1
* Corneal hypesthesia, familial
* Cornelia de Lange syndrome
* Corpus callosum agenesis double urinary collecting
* Corticobasal degeneration
* Costello syndrome
* Crane-Heise syndrome
* Craniofrontonasal dysplasia
* Craniopharyngioma
* Craniorachischisis
* Craniotelencephalic dysplasia
* CREST syndrome
* Creutzfeldt-Jakob disease
* Crisponi syndrome
* Crome syndrome
* Curry Jones syndrome
* Cylindrical spirals myopathy
* Cyprus facial neuromusculoskeletal syndrome
* Cytomegalic inclusion disease
* Dancing eyes-dancing feet syndrome
* Dandy-Walker like malformation with atrioventricular septal defect
* Dandy-Walker malformation with facial hemangioma
* Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
* Danon disease
* DDOST-CDG (CDG-Ir)
* Deafness onychodystrophy osteodystrophy and mental retardation syndrome
* Deafness, dystonia, and cerebral hypomyelination
* Dementia familial British
* Dentatorubral-pallidoluysian atrophy
* Dermatomyositis
* Developmental dysphasia familial
* Devic disease
* Dihydropteridine reductase deficiency
* Distal myopathy Markesbery-Griggs type
* Distal myopathy with vocal cord weakness
* Dopamine beta hydroxylase deficiency
* 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
* Dwarfism, mental retardation and eye abnormality
* 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 1
* Dystonia 10
* Dystonia 11
* Dystonia 12
* Dystonia 13
* Dystonia 15, myoclonic
* Dystonia 16
* Dystonia 17
* Dystonia 18
* Dystonia 19
* Dystonia 2, torsion, autosomal recessive
* Dystonia 3, torsion, X-linked
* Dystonia 4, torsion, autosomal dominant type
* Dystonia 5, Dopa-responsive type
* Dystonia 6, torsion
* Dystonia 7, torsion
* Dystonia 8
* Early Infantile Epileptic Encephalopathy
* Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Eastern equine encephalitis
* Ehlers-Danlos syndrome, musculocontractural type
* Emery-Dreifuss muscular dystrophy, X-linked
* Empty sella syndrome
* Encephalitis lethargica
* Encephalocraniocutaneous lipomatosis
* Encephalomyopathy
* Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
* Eosinophilic fasciitis
* Epidermolysa bullosa simplex with muscular dystrophy
* Epilepsy juvenile absence
* Epilepsy occipital calcifications
* Epilepsy progressive myoclonic type 3
* Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
* Epiphyseal dysplasia hearing loss dysmorphism
* Episodic ataxia with nystagmus
* Erythromelalgia
*   Essential tremor
* Fabry disease
* Facial onset sensory and motor neuronopathy
* Facioscapulohumeral muscular dystrophy
* Fallot complex with severe mental and growth retardation
* Familial amyloidosis, Finnish type
* Familial congenital fourth cranial nerve palsy
* Familial dysautonomia
* Familial encephalopathy with neuroserpin inclusion bodies
* Familial exudative vitreoretinopathy
* Familial hemiplegic migraine
* Familial hemiplegic migraine type 1
* Familial hemiplegic migraine type 2
* Familial hemiplegic migraine type 3
* Familial idiopathic basal ganglia calcification
* Familial transthyretin amyloidosis
* Farber's disease
* Fatal familial insomnia
* Fatty acid hydroxylase-associated neurodegeneration
* Fazio Londe syndrome
* Febrile infection-related epilepsy syndrome
* Feigenbaum Bergeron Richardson syndrome
* Filippi syndrome
* Fine-Lubinsky syndrome
* Fitzsimmons Walson Mellor syndrome
* Fitzsimmons-Guilbert syndrome
* Floating-Harbor syndrome
* Florid cemento-osseous dysplasia
* Flynn Aird syndrome
* Focal dermal hypoplasia
* Fountain syndrome
* Fragile X syndrome
* Fragile XE syndrome
* Franek Bocker kahlen syndrome
* Friedreich ataxia
* Frontometaphyseal dysplasia
* Frontotemporal dementia
* Fryns syndrome
* Fucosidosis
* Fukuyama type muscular dystrophy
* Fumarase deficiency
* Galactosialidosis
* Gamma aminobutyric acid transaminase deficiency
* Gangliocytoma
* GAPO syndrome
* Gaucher disease type 1
* Gaucher disease type 2
* Gaucher disease type 3
* Gemignani syndrome
* Geniospasm
* Genoa syndrome
* Gerstmann syndrome
* Gerstmann-Straussler-Scheinker disease
* Giant axonal neuropathy
* Gillespie syndrome
* Glucose transporter type 1 deficiency syndrome
* Glutamine deficiency, congenital
* Glutaric acidemia type 3
* Glutaric acidemia type I
* Glutaric acidemia type II
* 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
* Goldberg-Shprintzen megacolon syndrome
* Gomez Lopez Hernandez syndrome
* Graham-Cox syndrome
* Granulomatosis with polyangiitis (Wegener's)
* 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 with photosensitivity and mental retardation
* Hallermann-Streiff syndrome
* Hamanishi Ueba Tsuji syndrome
* Hansen's disease
* Harding ataxia
* Harrod Doman Keele syndrome
* Hartnup disease
* Hashimoto's encephalitis
* Hemangioblastoma
* Hemicrania continua
* Hemimegalencephaly
* Hemiplegic migraine
* Hemophagocytic lymphohistiocytosis
* Hennekam syndrome
* Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* Hereditary diffuse leukoencephalopathy with spheroids
* Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* 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 palsy
* Hereditary sensorimotor neuropathy with hyperelastic skin
* Hereditary sensory and autonomic neuropathy type 2
* Hereditary sensory neuropathy type 1
* Hereditary sensory neuropathy type IE
* Hereditary spastic paraplegia
* Hereditary vascular retinopathy
* Herpes simplex encephalitis
* Herpes zoster oticus
* Homocystinuria due to CBS deficiency
* Homocystinuria due to MTHFR deficiency
* Hoyeraal Hreidarsson syndrome
* HTLV-1 associated myelopathy/tropical spastic paraparesis
* Huntington disease
* Hyde Forster Mccarthy Berry syndrome
* Hydranencephaly
* Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydroxykynureninuria
* Hyperbetaalaninemia
* Hyperkalemic periodic paralysis
* Hyperphenylalaninemia due to dehydratase deficiency
* Hyperprolinemia
* Hyperprolinemia type 2
* Hypertrophic neuropathy of Dejerine-Sottas
* Hypokalemic periodic paralysis
* Hypomelanosis of Ito
* Hypomyelination and congenital cataract
* Hypomyelination with atrophy of basal ganglia and cerebellum
* Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypospadias mental retardation Goldblatt type
* Hypothalamic hamartomas
* Ichthyosis alopecia eclabion ectropion mental retardation
* 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 convulsions and paroxysmal choreoathetosis, familial
* Infantile myofibromatosis
* Infantile onset spinocerebellar ataxia
* Infantile Parkinsonism-dystonia
* Infantile spasms broad thumbs
* Intellectual deficit - short stature - hypertelorism
* Intellectual deficit Buenos-Aires type
* Intellectual disability - hypoplastic corpus callosum - preauricular tag
* Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
* Internal carotid agenesis
* Intraneural perineurioma
* Isodicentric chromosome 15 syndrome
* Johanson Blizzard syndrome
* Johnson neuroectodermal syndrome
* Joubert syndrome
* Joubert syndrome with oculorenal anomalies
* Juberg Marsidi syndrome
* Juvenile dermatomyositis
* Juvenile Huntington disease
* Juvenile primary lateral sclerosis
* Kabuki syndrome
* Kanzaki disease
* Kapur Toriello syndrome
* KBG syndrome
* Kearns-Sayre syndrome
* Kennedy disease
* Keratosis follicularis dwarfism and cerebral atrophy
* Keutel syndrome
* King Denborough syndrome
* Kleine Levin syndrome
* Klumpke paralysis
* Kosztolanyi syndrome
* Kuru
* L-2-hydroxyglutaric aciduria
* Laband syndrome
* Lafora disease
* Laing distal myopathy
* Lambert Eaton myasthenic syndrome
* Landau-Kleffner syndrome
* Lateral meningocele syndrome
* LCHAD deficiency
* Leigh syndrome, French Canadian type
* Leisti Hollister Rimoin syndrome
* Lennox-Gastaut syndrome
* Lenz Majewski hyperostotic dwarfism
* Lenz microphthalmia syndrome
* Lesch Nyhan syndrome
* Leukodystrophy with oligodontia
* Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
* Leukoencephalopathy - dystonia - motor neuropathy
* Levic Stefanovic Nikolic syndrome
* Lhermitte-Duclos disease
* Li-Fraumeni syndrome
* Limb dystonia
* 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 2E
* Limb-girdle muscular dystrophy type 2F
* Limb-girdle muscular dystrophy type 2H
* Limb-girdle muscular dystrophy type 2I - See Limb-girdle muscular dystrophy
* 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 2A
* Limb-girdle muscular dystrophy, type 2B
* Limb-girdle muscular dystrophy, type 2C
* Limb-girdle muscular dystrophy, type 2D
* Limb-girdle muscular dystrophy, type 2G
* Limited cutaneous systemic sclerosis
* Lissencephaly 1
* Lissencephaly 2
* Lissencephaly X-linked
* Localized hypertrophic neuropathy
* Locked-in syndrome
* Logopenic progressive aphasia
* Lowe oculocerebrorenal syndrome
* Lowry Maclean syndrome
* Lubs X-linked mental retardation syndrome
* Lujan Fryns syndrome
* Mac Dermot Winter syndrome
* Macrogyria, pseudobulbar palsy and mental retardation
* Macrothrombocytopenia progressive deafness
* Mal de debarquement
* Male pseudohermaphroditism intellectual disability syndrome, Verloes type
* Malignant hyperthermia
* 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
* MAN1B1-CDG
* Mannosidosis, beta A, lysosomal
* Marchiafava Bignami disease
* Marden-Walker syndrome
* Marinesco-Sjogren syndrome
* Martsolf syndrome
* Maternally inherited Leigh syndrome
* McDonough syndrome
* McLeod neuroacanthocytosis syndrome
* Meckel syndrome
* Medrano Roldan syndrome
* Medulloblastoma
* Megalencephalic leukoencephalopathy with subcortical cysts
* Megaloblastic anemia due to dihydrofolate reductase deficiency
* Megalocornea mental retardation syndrome
* Mehes syndrome
* Meier-Gorlin syndrome
* Meige syndrome
* Melnick-Needles syndrome
* Meningioma
* Meningioma, spinal
* Menkes disease
* Mental deficiency-epilepsy-endocrine disorders
* Mental retardation skeletal dysplasia abducens palsy
* Mental retardation Smith Fineman Myers type
* Mental retardation Wolff type
* Mental retardation X-linked syndromic 7
* Mental retardation-hypotonic facies syndrome X-linked, 1
* Meralgia paresthetica
* Metaphyseal dysostosis mental retardation conductive deafness
* Methionine adenosyltransferase deficiency
* Methylcobalamin deficiency cbl G type
* Methylmalonic acidemia and homocystinuria cblC type
* MGAT2-CDG (CDG-IIa)
* 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 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, hiatal hernia and nephrotic syndrome
* Microcephaly, seizures, and developmental delay
* Microcephaly-cardiomyopathy
* Microphthalmia syndromic 10
* Microphthalmia syndromic 4
* Microphthalmia syndromic 7
* Microphthalmia syndromic 8
* Microscopic polyangiitis
* Miller-Dieker syndrome
* Miller-Fisher syndrome
* Minicore myopathy with external ophthalmoplegia
* Mitochondrial complex I deficiency
* Mitochondrial complex II deficiency
* Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* 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
* Morse-Rawnsley-Sargent syndrome
* Morvan's fibrillary chorea
* Motor neuropathy peripheral with dysautonomia
* Mousa Al din Al Nassar syndrome
* Moyamoya disease
* MPDU1-CDG (CDG-If)
* MPI-CDG (CDG-Ib)
* MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
* Mucopolysaccharidosis type IIIA
* Mucopolysaccharidosis type IIIB
* Multifocal motor neuropathy
* Multifocal motor neuropathy with conduction block
* Multiple myeloma
* Multiple sulfatase deficiency
* Multiple system atrophy (MSA) with orthostatic hypotension
* Muscle eye brain disease
* Muscular dystrophy white matter spongiosis
* Muscular phosphorylase kinase deficiency
* Myasthenia gravis
* Myelocerebellar disorder
* Myelomeningocele
* Myhre syndrome
* Myoclonic astatic epilepsy
* Myoclonus ataxia
* Myoclonus cerebellar ataxia deafness
* Myoclonus hereditary progressive distal muscular atrophy
* Myoclonus with epilepsy with ragged red fibers
* Myoglobinuria recurrent
* Myopathy congenital multicore with external ophthalmoplegia
* Myotonia congenita autosomal dominant
* Myotonia congenita autosomal recessive
* Myotonic dystrophy type 1
* Myotonic dystrophy type 2
* Nance-Horan syndrome
* Narcolepsy
* Native American myopathy
* Nemaline myopathy 5
* Neonatal adrenoleukodystrophy
* Neonatal meningitis
* Neonatal progeroid syndrome
* Neu Laxova syndrome
* Neuroaxonal dystrophy, infantile
* Neuroblastoma
* Neurocutaneous melanosis
* Neurofaciodigitorenal syndrome
* Neuroferritinopathy
* Neurofibromatosis type 1
* Neurofibromatosis type 2
* Neuromyelitis optica spectrum disorder
* Neuronal ceroid lipofuscinoses
* 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
* Nicolaides-Baraitser syndrome
* Niemann-Pick disease type A
* Niemann-Pick disease type B
* Non 24 hour sleep wake disorder
* Nondystrophic myotonia
* Normokalemic periodic paralysis
* Norrie disease
* NORSE
* Northern Epilepsy
* Occult spinal dysraphism
* Oculocerebrocutaneous syndrome
* Oculofaciocardiodental syndrome
* Oculopharyngeal muscular dystrophy
* Okamoto syndrome
* Oligoastrocytoma
* Oliver syndrome
* Olivopontocerebellar atrophy
* Omphalocele cleft palate syndrome lethal
* Optic atrophy 2
* Ornithine transcarbamylase deficiency
* Orofaciodigital syndrome 1
* Orofaciodigital syndrome 10
* Orofaciodigital syndrome 2
* Orofaciodigital syndrome 3
* Orofaciodigital syndrome 4
* Orofaciodigital syndrome 5
* Orofaciodigital syndrome 6
* Osteopenia and sparse hair
* Osteoporosis-pseudoglioma syndrome
* Oto-palato-digital syndrome type 1
* Oto-palato-digital syndrome type 2
* Ouvrier Billson syndrome
* Pachygyria with mental retardation and seizures
* Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
* Pallidopyramidal syndrome
* Pallister W syndrome
* Pallister-Killian mosaic syndrome
* PANDAS
* Pantothenate kinase-associated neurodegeneration
* Paralysis agitans, juvenile, of Hunt
* Paramyotonia congenita
* Parenchymatous cortical degeneration of cerebellum
* Parkinson disease type 3
* Parkinson disease type 9
* Parkinsonism, early onset with mental retardation
* Paroxysmal hemicrania
* Parsonage Turner syndrome
* Partington X-linked mental retardation syndrome
* PCDH19-related female-limited epilepsy
* PEHO syndrome
* Pelizaeus-Merzbacher disease
* Pelizaeus-Merzbacher disease, late-onset type
* Periventricular leukomalacia
* Perry syndrome
* Peters plus syndrome
* Pfeiffer Mayer syndrome
* Pfeiffer Palm Teller syndrome
* PHACE syndrome
* Phosphoglycerate kinase deficiency
* Phosphoglycerate mutase deficiency
* Photosensitive epilepsy
* Pick's disease
* Pitt-Hopkins syndrome
* Pitt-Hopkins-like syndrome
* Pleomorphic xanthoastrocytoma
* PMM2-CDG (CDG-Ia)
* POEMS syndrome
* Poliomyelitis
* Polyarteritis nodosa
* Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Polydactyly cleft lip palate psychomotor retardation
* Polyglucosan body disease, adult
* Polyneuropathy mental retardation acromicria premature menopause
* 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
* Potassium aggravated myotonia
* 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 lateral sclerosis
* Primary melanoma of the central nervous system
* Primary progressive aphasia
* Progressive bulbar palsy
* Progressive hemifacial atrophy
* Progressive non-fluent aphasia
* Proteus syndrome
* Proud Levine Carpenter syndrome
* Pseudoaminopterin syndrome
* Pseudoneonatal adrenoleukodystrophy
* Pseudoprogeria syndrome
* Pseudotrisomy 13 syndrome
* Pseudotumor cerebri
* 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
* 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
* Restless legs syndrome, susceptibility to, 2
* Restless legs syndrome, susceptibility to, 3
* Restless legs syndrome, susceptibility to, 4
* Restless legs syndrome, susceptibility to, 5
* Restless legs syndrome, susceptibility to, 6
* Retinal vasculopathy with cerebral leukodystrophy
* Rett syndrome
* RFT1-CDG (CDG-In)
* Rhabdoid tumor
* Rhizomelic chondrodysplasia punctata type 1
* Richards-Rundle syndrome
* Rigid spine syndrome
* Ring chromosome 10
* Ring chromosome 14
* Ring chromosome 20
* Rippling muscle disease
* Roussy Levy syndrome
* Ruvalcaba syndrome
* Sacral defect with anterior meningocele
* Salla disease
* Sandhoff disease
*   Sarcoidosis
* Say Barber Miller syndrome
* Say Meyer syndrome
* Scapuloperoneal syndrome, neurogenic, Kaeser type
* SCARF syndrome
* Schimke immunoosseous dysplasia
* Schindler disease type 1
* Schinzel Giedion syndrome
* Schisis association
* Schizencephaly
* Schwannomatosis
* Schwartz Jampel syndrome type 1
* Scott Bryant Graham syndrome
* Seaver Cassidy syndrome
* Seckel syndrome
* Semantic dementia
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
* Sepiapterin reductase deficiency
* Septo-optic dysplasia
* SeSAME syndrome
* Shapiro syndrome
* Sharp syndrome
* Short chain acyl CoA dehydrogenase deficiency
* Shprintzen-Goldberg craniosynostosis syndrome
* Sialidosis type I
* Sialidosis, type II
* Siderius X-linked mental retardation syndrome
* 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 20
* Spastic paraplegia 23
* Spastic paraplegia 24
* Spastic paraplegia 25
* Spastic paraplegia 26
* Spastic paraplegia 29
* Spastic paraplegia 3
* Spastic paraplegia 31
* 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 epilepsy mental retardation
* Spastic paraplegia facial cutaneous lesions
*   Spina bifida occulta
* Spinal atrophy ophthalmoplegia pyramidal syndrome
* 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 19/22 - See Hereditary ataxia
* 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 1
* 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
* Spondyloepiphyseal dysplasia congenita
* SRD5A3-CDG (CDG-Iq)
* SSR4-CDG
* Status epilepticus
* Steinfeld syndrome
* Stiff person syndrome
* Stratton-Garcia-Young 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
* Tarlov cysts
* Tay-Sachs disease
* Tel Hashomer camptodactyly syndrome
* Temporal epilepsy, familial
* Temtamy syndrome
* Thalamic degeneration symmetrical infantile
* Thalamic degeneration, symmetric infantile
*   Thoracic outlet syndrome
* Thyrotoxic periodic paralysis
* TMEM165-CDG (CDG-IIk)
* Toriello Carey syndrome
* Torsion dystonia with onset in infancy
*   Tourette syndrome
* Transverse myelitis
* Trichinosis
* Trichorhinophalangeal syndrome type 2
* Trigeminal neuralgia
* Triose phosphate-isomerase deficiency
* Triple A syndrome
* Tuberous sclerosis
* Tubular aggregate 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
* Vein of Galen aneurysm
* Vici syndrome
* Viljoen Kallis Voges syndrome
* VLCAD deficiency
* Vogt-Koyanagi-Harada disease
* Von Hippel-Lindau disease
* Walker-Warburg syndrome
* Warburg micro syndrome
* Weaver syndrome
* Welander distal myopathy, Swedish type
* Wernicke-Korsakoff syndrome
* West syndrome
* Westphal disease
* Whispering dysphonia, hereditary
*   White matter hypoplasia - corpus callosum agenesis - intellectual disability - See Syndrome with corpus callosum agenesis /dysgenesis as a major feature
* Wieacker syndrome
* Williams syndrome
* Wilson disease
* Wittwer syndrome
* Wolf-Hirschhorn syndrome
* Wolman disease
* Woodhouse Sakati syndrome
* Worster Drought syndrome
* Wrinkly skin syndrome
* Wyburn Mason's syndrome
* X-linked Charcot-Marie-Tooth disease type 1
* X-linked Charcot-Marie-Tooth disease type 2
* X-linked Charcot-Marie-Tooth disease type 3
* X-linked Charcot-Marie-Tooth disease type 4
* X-linked Charcot-Marie-Tooth disease type 5
* X-linked Charcot-Marie-Tooth disease type 6
* X-linked complicated corpus callosum dysgenesis - See L1 syndrome
* X-linked complicated spastic paraplegia type 1 - See L1 syndrome
* X-linked creatine deficiency
* X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
* X-linked intellectual disability - short stature – obesity
* X-linked lissencephaly with abnormal genitalia
* X-linked myopathy with excessive autophagy
*   X-linked myotubular myopathy
* X-linked periventricular heterotopia
* XK aprosencephaly
* Zechi Ceide syndrome
* Zellweger syndrome