Conditions / Genetic
congenital hydrocephalus 2
info · Genetic
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23.
Signs and symptoms
- Hydrocephalus
- Ventriculomegaly
- Lissencephaly
- Strabismus
- Seizure
- Gray matter heterotopia
- Motor delay
- Bulbous nose
- Iris coloboma
- Macular hypoplasia