Conditions / Syndrome
holoprosencephaly 3
info · Syndrome
A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.
Signs and symptoms
- Cyclopia
- Microcephaly
- Cleft palate
- Holoprosencephaly
- Bifid uvula
- Short columella
- Proboscis
- Global developmental delay
- Malar flattening
- Midface retrusion
Also known as: HLP3; HPE3