Holoprosencephaly 13, X-linked

info · Syndrome

A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.

Signs and symptoms

Microcephaly
Intellectual disability
Global developmental delay
Hearing impairment
Seizure
Hypoplastic left ventricle
Ventricular septal defect
Cleft palate
Thoracic hemivertebrae
Micrognathia