Conditions / Syndrome
Galloway-Mowat syndrome 10
info · Syndrome
A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34.
Signs and symptoms
- Stage 5 chronic kidney disease
- Microcephaly
- Delayed CNS myelination
- Proteinuria
- Diffuse mesangial sclerosis
- Congenital hypothyroidism
- Arachnodactyly
- Secondary microcephaly
- Cerebral atrophy
- Cerebellar atrophy