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Familial infantile myoclonic epilepsy
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation
1 associated gene
No signs/symptoms info
Familial infantile myoclonic epilepsy
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation

TBC1D24
(UniProt - OMIM)
 TBC1D24
(UniProt - OMIM)

COMMON
GENES 		TBC1D24


Citations in the biomedical literature:


Familial infantile myoclonic epilepsy
TBC1D24
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation



Familial infantile myoclonic epilepsy
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation

Synonym(s):
- FIME
Synonym(s):
- Focal epilepsy - intellectual deficit - dysarthria - ataxia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.