Short-rib thoracic dysplasia 13 with or without polydactyly

MONDO:0014577

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.

Also known as: SRTD13, short-rib thoracic dysplasia 13 with or without polydactyly

1 clinical trial for this condition and its sub-types, 0 tagged with Short-rib thoracic dysplasia 13 with or without polydactyly itself.

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