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