Conditions / Syndrome
Galloway-Mowat syndrome 9
info · Syndrome
A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32.
Signs and symptoms
- Stage 5 chronic kidney disease
- Microcephaly
- Cerebellar atrophy
- Cerebral cortical atrophy
- Global developmental delay
- Secondary microcephaly
- Thin corpus callosum
- Ventriculomegaly
- Focal segmental glomerulosclerosis
- Diffuse mesangial sclerosis