Conditions / Syndrome
Galloway-Mowat syndrome 8
info · Syndrome
A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in hom
A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42.
Signs and symptoms
- Stage 5 chronic kidney disease
- Strabismus
- Nephrotic syndrome
- Cerebral cortical atrophy
- Profound intellectual disability
- Focal segmental glomerulosclerosis
- Global developmental delay
- Hypotonia
- Proteinuria
- Brain atrophy