ODCs

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

PROTEIN INTERACTIONS: 1

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

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Chorioretinopathy, Birdshot type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BCAP31	(0.85)	HLA-A

Citations in the biomedical literature:

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		Chorioretinopathy, Birdshot type

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

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

	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: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537630

No signs/symptoms info available.