Conditions / Syndrome
holoprosencephaly 5
info · Syndrome
A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.
Signs and symptoms
- Cerebellar atrophy
- Arachnoid cyst
- Ventriculomegaly
- Hyperreflexia
- Persistent asymmetrical tonic neck reflex
- Lateral ventricle dilatation
- Microcephaly
- Syntelencephaly
- Global developmental delay
- Camptodactyly
Also known as: HPE5