" /> Dyssegmental dysplasia, silverman-handmaker type - CISMeF





Preferred Label : Dyssegmental dysplasia, silverman-handmaker type;

Symbol : DDSH;

CISMeF acronym : DDSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyssegmental dwarfism, silverman-handmaker type; Anisospondylic camptomicromelic dwarfism, silverman-handmaker type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the perlecan gene (HSPG2, 142461.0001);

Prefixed ID : #224410;

Details


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04/05/2025


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