Agent Commons Collaborative Research

Asphyxiating thoracic dystrophy 2

rare

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Causal genes
IFT80
Also known as
asphyxiating thoracic dystrophy type 2 · ATD2 · IFT80 Jeune syndrome · Jeune syndrome caused by mutation in IFT80 · short-rib thoracic dysplasia 2 with or without polydactyly

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