Conditions / Syndrome

holoprosencephaly 7

info · Syndrome

A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

Signs and symptoms

Microcephaly
Macrotia
Global developmental delay
Alobar holoprosencephaly
Parietal bossing
Flat nasal alae
Seizure
Midline defect of the nose
Broad face
Unilateral cleft lip

Also known as: HPE7