ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
2 associated genes
No signs/symptoms info

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Combined deficiency of factor V and factor VIII

BCAP31	(UniProt - OMIM)		LMAN1	(UniProt - OMIM)
			MCFD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BCAP31	(0.67)	LMAN1

Citations in the biomedical literature:

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		Combined deficiency of factor V and factor VIII
	Synonym(s): (no synonyms)		Synonym(s): - F5F8D - FV and FVIII combined deficiency - Familial multiple coagulation factor deficiency

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.