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Familial infantile myoclonic epilepsy
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation
Malignant migrating partial seizures of infancy
Progressive myoclonic epilepsy with dystonia
Synonym(s):
- FIME
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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
Gene symbol UniProt reference OMIM reference
TBC1D24 Q9ULP9613577
No signs/symptoms info available.