Conditions / Syndrome
Galloway-Mowat syndrome 3
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.
Signs and symptoms
- Nystagmus
- Downslanted palpebral fissures
- Microcephaly
- Global developmental delay
- Microphthalmia
- Failure to thrive
- Epicanthus
- Strabismus
- Short stature
- Seizure