Short-rib thoracic dysplasia 14 with polydactyly

MONDO:0014688

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Also known as: SRTD14, short-rib thoracic dysplasia 14 with polydactyly

19 clinical trials for this condition and its sub-types, 0 tagged with Short-rib thoracic dysplasia 14 with polydactyly itself.

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