ODCs

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1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation

Autosomal recessive deafness-onychodystrophy syndrome

Citations in the biomedical literature:

Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation		Autosomal recessive deafness-onychodystrophy syndrome
	Synonym(s): - Focal epilepsy - intellectual deficit - dysarthria - ataxia		Synonym(s): - DOOR syndrome - Deafness - onycho-osteodystrophy - intellectual deficit - Deafness - onychodystrophy - osteodystrophy - intellectual deficit

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.