short-rib thoracic dysplasia 9 with or without polydactyly (Q5162309)

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An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
  • SRTD9
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
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English
short-rib thoracic dysplasia 9 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
  • SRTD9
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

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