/short-rib thoracic dysplasia 14 with polydactyly

short-rib thoracic dysplasia 14 with polydactyly

Rare Disease

MONDO:0014688

Also Known As

SRTD14short-rib thoracic dysplasia 14 with polydactyly

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

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

asphyxiating thoracic dystrophy 1

MONDO:0008831

Ellis-van Creveld syndrome

MONDO:0009162

short-rib thoracic dysplasia 6 with or without polydactyly

MONDO:0009894

short-rib thoracic dysplasia 9 with or without polydactyly

MONDO:0009964

Beemer-Langer syndrome

MONDO:0010024

asphyxiating thoracic dystrophy 2

MONDO:0012644