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
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)
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 hypomyelination neuropathy
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
Leisti Hollister Rimoin syndrome
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
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)
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 hypomyelination neuropathy
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
Leisti Hollister Rimoin syndrome
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
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