" /> Cohen syndrome - CISMeF





Preferred Label : Cohen syndrome;

Symbol : COH1;

CISMeF acronym : COH; COH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chs1; Hypotonia, obesity, and prominent incisors; Pepper syndrome; COH;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (VPS13B, 607817.0001);

Prefixed ID : #216550;

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29/07/2025


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