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

Congenital valvular dysplasia

Charcot-Marie-Tooth disease type 2B1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.73)	LMNA

Citations in the biomedical literature:

Congenital valvular dysplasia		Charcot-Marie-Tooth disease type 2B1
	Synonym(s): (no synonyms)		Synonym(s): - AR-CMT2B1 - Autosomal recessive Charcot-Marie-Tooth disease type 2B1 - Autosomal recessive axonal CMT4C1

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac 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: unknown Average age onset: childhood Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537990

No signs/symptoms info available.