Contents

Search

Weaver-Smith syndrome

Genetics: - caused by defects in the NSD1 gene Clinical manifestations: 1) accelerated growth & osseous maturation 2) unusual craniofacial appearance, hoarse & low-pitched cry 3) hypertonia 4) camptodactyly 5) psychomotor delay 6) looseness of skin 7) hernias

General

genetic syndrome (multisystem disorder)

References

  1. UniProt :accession Q96L73
  2. OMIM :accession 277590