Mutations in MPDZ may cause the following health conditions:
- Excessive build-up of cerebrospinal fluid within the ventricles, the fluid-containing cavities of the brain
- Abnormal enlargement of the head
- Delay in the developmental milestones
- Delay in intellectual development
- Seizures
- Heart wall defects
- Iris coloboma (a hole/defect in the iris of the eye)
- Abnormal brain structure (detected by MRI imaging):
- Lissencephaly (“smooth brain” or absence of normal convolutions of the brain)
- Thinning of the corpus callosum (thinning of the structure that connects the two sides of the brain)
- Neuronal heterotopia (clumps of brain cells found in the wrong locations)