Conditions / Syndrome
Galloway-Mowat syndrome 4
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.
Signs and symptoms
- Nephrotic syndrome
- Proteinuria
- Primary microcephaly
- Hypotonia
- Global developmental delay
- Seizure
- Congenital nephrotic syndrome
- Delayed speech and language development
- Tapered finger
- Visual impairment