" /> Schaaf-yang syndrome - CISMeF





Preferred Label : Schaaf-yang syndrome;

Symbol : SHFYNG;

CISMeF acronym : PWLS; SHFYNG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PWLS; Prader-willi-like syndrome; Chitayat-hall syndrome; Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mage-like 2 gene (MAGEL2, 605283.0001);

Prefixed ID : #615547;

Details


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02/05/2025


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