" /> Short-rib thoracic dysplasia 5 with or without polydactyly - CISMeF





Preferred Label : Short-rib thoracic dysplasia 5 with or without polydactyly;

Symbol : SRTD5;

CISMeF acronym : ATD5; SRTD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asphyxiating thoracic dystrophy 5; ATD5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-19 gene (WDR19, 608151.0003);

Prefixed ID : #614376;

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04/06/2025


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