Short-rib thoracic dysplasia 8 with or without polydactyly

MONDO:0014214

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

Also known as: SRPS6, SRTD8, short-rib thoracic dysplasia 8 with or without polydactyly, short rib-polydactyly syndrome, type 6

1 clinical trial for this condition and its sub-types, 0 tagged with Short-rib thoracic dysplasia 8 with or without polydactyly itself.

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