(Q27164449)

English

short-rib thoracic dysplasia 7 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

  • SRPS5
  • SRTD7
  • short rib-polydactyly syndrom type V
  • Short Rib-Polydactyly Syndrome, Type 5
  • SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7
  • SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

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