Conditions / Syndrome
Galloway-Mowat syndrome 7
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
Signs and symptoms
- Narrow forehead
- Sloping forehead
- Intellectual disability
- Microcephaly
- Micrognathia
- Stage 5 chronic kidney disease
- Smooth philtrum
- Eczematoid dermatitis
- Proteinuria
- Nephrotic syndrome