Conditions / Syndrome

Galloway-Mowat syndrome 6

info ยท Syndrome

A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22.

Signs and symptoms

  • Decreased body weight
  • Anteverted nares
  • Short stature
  • Sleep disturbance
  • Motor delay
  • Motor stereotypy
  • Intellectual disability
  • Cerebellar vermis atrophy
  • Microcephaly
  • Delayed speech and language development