Conditions / Syndrome
holoprosencephaly 2
info · Syndrome
A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
Signs and symptoms
- Global developmental delay
- Hypotelorism
- Bilateral cleft lip
- Bilateral cleft palate
- Alobar holoprosencephaly
- Cyclopia
- Anterior pituitary agenesis
- Single ventricle
- Seizure
- Median cleft upper lip
Also known as: HPE2