Conditions / Syndrome
Galloway-Mowat syndrome 5
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.
Signs and symptoms
- Epicanthus
- Long face
- Deeply set eye
- Global developmental delay
- Focal segmental glomerulosclerosis
- Proteinuria
- Steroid-resistant nephrotic syndrome
- Primary microcephaly
- Hypertelorism
- Spasticity