Conditions / Genetic

congenital hydrocephalus 3

info ยท Genetic

A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.

Signs and symptoms

  • Hydrocephalus
  • Brain atrophy
  • Abnormal facial shape
  • Cerebellar agenesis
  • Polyhydramnios
  • Cerebellar hypoplasia
  • Holoprosencephaly
  • Dandy-Walker malformation
  • Ventriculomegaly
  • Redundant neck skin