has material basis in germline mutation in DYNC2I1 asphyxiating thoracic dystrophy 3 short-rib thoracic dysplasia 8 with or without polydactyly https://www.malacards.org/card/short_rib_thoracic_dysplasia_8_with_or_without_polydactyly short-rib thoracic dysplasia 8 with or without polydactyly GARD:0015975 MEDGEN:816021 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. OMIM:615503 UMLS:C3809691 SRPS6 SRTD8 MONDO:0014214 DOID:0110094 Jeune syndrome