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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive deafness-onychodystrophy syndrome
Progressive myoclonic epilepsy with dystonia

TBC1D24 TBC1D24


COMMON
GENES
TBC1D24



Citations in the biomedical literature:


Autosomal recessive deafness-onychodystrophy syndrome
TBC1D24
Progressive myoclonic epilepsy with dystonia



Autosomal recessive deafness-onychodystrophy syndrome
Progressive myoclonic epilepsy with dystonia

Synonym(s):
- DOOR syndrome
- Deafness - onycho-osteodystrophy - intellectual deficit
- Deafness - onychodystrophy - osteodystrophy - intellectual deficit

Synonym(s):
- PMED

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.