Agent Commons Collaborative Research

Short-rib thoracic dysplasia 14 with polydactyly

rare

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

Identifiers
MONDO:0014688 OMIM:616546
Causal genes
KIAA0586
Part of
Jeune syndromeJoubert syndrome with Jeune asphyxiating thoracic dystrophy
Also known as
SRTD14

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