" /> Van den ende-gupta syndrome - CISMeF





Preferred Label : Van den ende-gupta syndrome;

Symbol : VDEGS;

CISMeF acronym : VDEGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marden-walker-like syndrome without psychomotor retardation; Blepharophimosis, arachnodactyly, and congenital contractures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the scavenger receptor class F, member 2 gene (SCARF2, 613619.0001);

Prefixed ID : #600920;

Details


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04/05/2025


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