Asphyxiating thoracic dystrophy 5

MONDO:0013717

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.

Also known as: ATD5, Jeune syndrome caused by mutation in WDR19, SRTD5, WDR19 Jeune syndrome, asphyxiating thoracic dystrophy 5, asphyxiating thoracic dystrophy type 5, short-rib thoracic dysplasia 5 with or without polydactyly

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