" /> Deafness, autosomal recessive 53 - CISMeF





Preferred Label : Deafness, autosomal recessive 53;

Symbol : DFNB53;

CISMeF acronym : DFNB53;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-2 collagen XI polypeptide gene (COL11A2, 120290.0010);

Prefixed ID : #609706;

Details


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03/05/2025


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