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145 Result(s)

ORPHA:505216  3-methylglutaconic aciduria type 9

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Synonym(s) : 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome

ORPHA:435638  3p25.3 microdeletion syndrome

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Synonym(s) : Intellectual disability-epilepsy-stereotypic hand movement syndrome

ORPHA:163696  Action myoclonus-renal failure syndrome

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Synonym(s) : Progressive myoclonic epilepsy type 4

ORPHA:1008  Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

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Keyword(s) : Alopecia-epilepsy-pyorrhea-mental subnormality syndrome

ORPHA:1946  Amelocerebrohypohidrotic syndrome

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Synonym(s) : Epilepsy-dementia-amelogenesis imperfecta syndrome

ORPHA:171714  Amish infantile epilepsy syndrome

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Synonym(s) : Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:101046  Autosomal dominant epilepsy with auditory features

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Synonym(s) : Partial epilepsy with auditory aura ; Partial epilepsy with auditory features ; Autosomal dominant lateral temporal lobe epilepsy

ORPHA:86814  Benign adult familial myoclonic epilepsy

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Synonym(s) : Familial adult myoclonic epilepsy ; Benign adult familial myoclonus epilepsy ; Familial cortical myoclonic tremor and epilepsy ; Autosomal dominant cortical myoclonus and epilepsy

ORPHA:98816  Benign childhood occipital epilepsy, Gastaut type

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Synonym(s) : Late-onset benign childhood occipital epilepsy

ORPHA:98815  Benign childhood occipital epilepsy, Panayiotopoulos type

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Synonym(s) : Early-onset benign childhood occipital epilepsy

ORPHA:140927  Benign familial neonatal-infantile seizures

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Synonym(s) : Benign neonatal-infantile epilepsy

ORPHA:127  Borjeson-Forssman-Lehmann syndrome

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Synonym(s) : Intellectual disability-epilepsy-endocrine disorders syndrome

ORPHA:85278  Christianson syndrome

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Synonym(s) : X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

ORPHA:79095  Congenital bile acid synthesis defect type 4

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Synonym(s) : Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

ORPHA:371071  Congenital disorder of glycosylation with epilepsy as a major feature

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Synonym(s) : CDG with epilepsy as a major feature

ORPHA:329178  Congenital muscular dystrophy with intellectual disability and severe epilepsy

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Synonym(s) : CMD with intellectual disability and severe epilepsy

ORPHA:79134  DEND syndrome

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Synonym(s) : Developmental delay-epilepsy-neonatal diabetes syndrome

ORPHA:33069  Dravet syndrome

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Synonym(s) : Severe myoclonus epilepsy of infancy

ORPHA:199343  EAST syndrome

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Keyword(s) : Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome

ORPHA:411986  Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

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Synonym(s) : Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:313772  Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

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Synonym(s) : AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome

ORPHA:166418  Eating reflex epilepsy

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Synonym(s) : Eating epilepsy

ORPHA:98820  Familial focal epilepsy with variable foci

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Synonym(s) : Familial partial epilepsy with variable foci

ORPHA:352582  Familial infantile myoclonic epilepsy

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Synonym(s) : Familial infantile myoclonus epilepsy

ORPHA:101039  Female restricted epilepsy with intellectual disability

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Keyword(s) : Epilepsy, female restricted, with mental retardation ; Familial epilepsy and mental retardation limited to females

ORPHA:352587  Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

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Synonym(s) : Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

Keyword(s) : Focal epilepsy-mental retardation-dysarthria-ataxia syndrome ; Focal epilepsy-mental retardation-cerebro-cerebellar malformation syndrome

ORPHA:79097  Folinic acid-responsive seizures

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Keyword(s) : Epilepsy

ORPHA:2139  Hernández-Aguirre Negrete syndrome

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Synonym(s) : Intellectual disability-epilepsy-bulbous nose syndrome

ORPHA:79101  Hyperprolinemia type 2

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Keyword(s) : Epilepsy

ORPHA:86908  Idiopathic hemiconvulsion-hemiplegia syndrome

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Synonym(s) : Hemiconvulsion-hemiplegia-epilepsy syndrome

ORPHA:468620  Intellectual disability-epilepsy-extrapyramidal syndrome

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Keyword(s) : Mental retardation-epilepsy-extrapyramidal syndrome

ORPHA:99989  Intermediate DEND syndrome

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Synonym(s) : Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

ORPHA:65683  Isolated focal cortical dysplasia

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Synonym(s) : Epilepsy due to FCD

Keyword(s) : Drug-resistant epilepsy

ORPHA:268961  Isolated focal cortical dysplasia type I

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268994  Isolated focal cortical dysplasia type II

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Keyword(s) : Drug-resistant epilepsy

ORPHA:269001  Isolated focal cortical dysplasia type IIa

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Keyword(s) : Drug-resistant epilepsy

ORPHA:269008  Isolated focal cortical dysplasia type IIb

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268973  Isolated focal cortical dysplasia type Ia

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268980  Isolated focal cortical dysplasia type Ib

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268987  Isolated focal cortical dysplasia type Ic

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Keyword(s) : Drug-resistant epilepsy

ORPHA:307  Juvenile myoclonic epilepsy

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Synonym(s) : Juvenile myoclonus epilepsy

ORPHA:501  Lafora disease

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Synonym(s) : Progressive myoclonus epilepsy type 2

ORPHA:551  MERRF

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Synonym(s) : Myoclonus epilepsy associated with ragged-red fibres

ORPHA:293181  Malignant migrating partial seizures of infancy

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Synonym(s) : Malignant migrating partial epilepsy of infancy

ORPHA:457351  Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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Synonym(s) : Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Keyword(s) : Microcephaly-mental retardation-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:2574  Moynahan syndrome

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Synonym(s) : Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

ORPHA:86913  Myoclonic epilepsy in non-progressive encephalopathies

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Synonym(s) : Myoclonus epilepsy in non-progressive encephalopathies

ORPHA:86909  Myoclonic epilepsy of infancy

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Synonym(s) : Benign myoclonic epilepsy of infancy ; Benign myoclonus epilepsy of infancy

ORPHA:1942  Myoclonic-astastic epilepsy

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Synonym(s) : Myoclonic atonic epilepsy ; Epilepsy with myoclonic-atonic seizures ; Epilepsy with myoclonic-astatic seizures ; Myoclonic-astatic epilepsy in early childhood

ORPHA:2798  Pachygyria-intellectual disability-epilepsy syndrome

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Keyword(s) : Pachygyria-mental retardation-epilepsy syndrome

ORPHA:1947  Progressive epilepsy-intellectual disability syndrome, Finnish type

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Synonym(s) : Northern epilepsy ; NCL, Northern epilepsy variant ; CLN8 disease, Northern epilepsy variant ; Neuronal ceroid lipofuscinosis, Northern epilepsy variant

Keyword(s) : Progressive epilepsy-mental retardation, Finnish type

ORPHA:98261  Progressive myoclonic epilepsy

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Synonym(s) : Progressive myoclonus epilepsy

ORPHA:263516  Progressive myoclonic epilepsy type 3

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Synonym(s) : Progressive myoclonus epilepsy type 3 ; Progressive myoclonic epilepsy due to KCTD7 deficiency

ORPHA:402082  Progressive myoclonic epilepsy type 5

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Synonym(s) : Progressive myoclonus epilepsy type 5

ORPHA:280620  Progressive myoclonic epilepsy type 6

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Synonym(s) : Progressive myoclonus epilepsy type 6 ; North Sea progressive myoclonus epilepsy

ORPHA:435438  Progressive myoclonic epilepsy type 7

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Synonym(s) : Progressive myoclonus epilepsy type 7 ; Progressive myoclonic epilepsy due to KV3.1 deficiency ; Myoclonus epilepsy and ataxia due to potassium channel mutation

ORPHA:424027  Progressive myoclonic epilepsy type 8

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Synonym(s) : Progressive myoclonus epilepsy type 8 ; Progressive myoclonic epilepsy due to CERS1 deficiency

ORPHA:457265  Progressive myoclonic epilepsy type 9

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Synonym(s) : Progressive myoclonus epilepsy type 9 ; Progressive myoclonic epilepsy due to LMNB2 deficiency

ORPHA:352596  Progressive myoclonic epilepsy with dystonia

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Synonym(s) : Progressive myoclonus epilepsy with dystonia

ORPHA:79096  Pyridoxal phosphate-responsive seizures

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Keyword(s) : Epilepsy

ORPHA:1945  Rolandic epilepsy

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Synonym(s) : Centrotemporal epilepsy ; Benign rolandic epilepsy ; Benign epilepsy of childhood with centrotemporal spikes ; Benign familial epilepsy of childhood with rolandic spikes

ORPHA:94066  Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

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Keyword(s) : Mental retardation, severe-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome

ORPHA:438178  Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

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Synonym(s) : Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency ; Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder

Keyword(s) : Severe mental retardation-epilepsy-cataract syndrome due to FAR1 deficiency

ORPHA:2816  Spastic paraplegia-epilepsy-intellectual disability syndrome

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Keyword(s) : Spastic paraplegia-epilepsy-mental retardation syndrome

ORPHA:254881  Spinocerebellar ataxia with epilepsy

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Synonym(s) : Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:308  Unverricht-Lundborg disease

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Synonym(s) : Progressive myoclonus epilepsy type 1

ORPHA:93951  X-linked dominant intellectual disability-epilepsy syndrome

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Keyword(s) : X-linked dominant type mental retardation-epilepsy syndrome

ORPHA:2076  X-linked intellectual disability-epilepsy syndrome

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Keyword(s) : X-linked mental retardation-epilepsy syndrome

ORPHA:85319  X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

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Keyword(s) : X-linked mental retardation-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA:3175  X-linked spasticity-intellectual disability-epilepsy syndrome

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Keyword(s) : Spasticity-mental retardation-X-linked epilepsy syndrome