/short-rib thoracic dysplasia 8 with or without polydactyly

short-rib thoracic dysplasia 8 with or without polydactyly

Rare Disease

MONDO:0014214

Also Known As

SRPS6SRTD8short rib-polydactyly syndrome type VIshort-rib thoracic dysplasia 8 with or without polydactylyshort rib-polydactyly syndrome, type 6

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

Comprehensive, easy-to-understand information about this condition

Checking for content...

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