Conditions / Syndrome
holoprosencephaly 4
info · Syndrome
A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11.
Signs and symptoms
- Microcephaly
- Dystonia
- Median cleft upper lip
- Seizure
- Absent nasal septal cartilage
- Aplasia of the premaxilla
- Depressed nasal bridge
- Median cleft palate
- Depressed nasal tip
- Diabetes insipidus
Also known as: HPE4