" /> Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development - CISMeF





Preferred Label : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development;

Symbol : COB1;

CISMeF acronym : COB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 65-kd YES-associated protein-1 gene (YAP1, 606608.0001);

Prefixed ID : #120433;

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30/07/2025


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