" /> Chops syndrome - CISMeF





Preferred Label : Chops syndrome;

Symbol : CHOPS;

CISMeF acronym : CHOPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AF4/FMR2 family, member 4 gene (AFF4, 604417.0001);

Prefixed ID : #616368;

Details


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02/05/2025


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