Conditions / Syndrome
Galloway-Mowat syndrome 2
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28.
Signs and symptoms
- Stage 5 chronic kidney disease
- Nephrotic syndrome
- Intellectual disability
- Global developmental delay
- Proteinuria
- Primary microcephaly
- Narrow forehead
- Short stature
- Cerebellar atrophy
- Seizure