(Q30989968)

English

Silverman-Handmaker type dyssegmental dysplasia

osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36

  • DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
  • Dyssegmental Dwarfism, Silverman-Handmaker Type
  • Dyssegmental dwarfism Silverman-Handmaker type
  • Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
  • DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
  • Dyssegmental dysplasia Silverman-Handmaker type
  • DDSH
  • Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type

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