disease has basis in dysfunction of KIAA0586 short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. DOID:0110096 ICD10:Q04.3 MONDO:0014688 OMIM:616546 SRTD14 UMLS:C4225286 short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome with Jeune asphyxiating thoracic dystrophy Jeune syndrome