Conditions / Syndrome
holoprosencephaly 9
info · Syndrome
A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
Signs and symptoms
- Hypoplasia of the maxilla
- Partial agenesis of the corpus callosum
- Dental malocclusion
- Macrotia
- Malar flattening
- Hypotelorism
- Seizure
- Hypoplasia of the premaxilla
- Prominent forehead
- Short hard palate
Also known as: HPE9; holoprosencephaly with microphthalmia and first branchial arch anomalies; pituitary anomalies with holoprosencephaly-like features