Cytoscape Web
Click node...

Autosomal recessive deafness-onychodystrophy syndrome
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Familial infantile myoclonic epilepsy
Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation
Malignant migrating partial seizures of infancy
Progressive myoclonic epilepsy with dystonia
Synonym(s):
- DOOR syndrome
- Deafness - onycho-osteodystrophy - intellectual deficit
- Deafness - onychodystrophy - osteodystrophy - intellectual deficit
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBC1D24 Q9ULP9613577
No signs/symptoms info available.