Conditions / Syndrome
holoprosencephaly 1
info · Syndrome
A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.
Signs and symptoms
- Alobar holoprosencephaly
- Cyclopia
- Short stature
- Single ventricle
- Seizure
- Median cleft upper lip
- Agenesis of corpus callosum
- Proboscis
- Generalized hypotonia
- Ethmocephaly
Also known as: HPE1