Conditions / Syndrome
Galloway-Mowat syndrome 1
info · Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
Signs and symptoms
- Intellectual disability
- Cerebellar atrophy
- Optic atrophy
- Delayed speech and language development
- Microcephaly
- Axial hypotonia
- Cerebral atrophy
- Spasticity
- Dystonia
- Epicanthus
Also known as: Galloway syndrome; SCAR5; autosomal recessive spinocerebellar ataxia 5; microcephaly, hiatal hernia and nephrotic syndrome; nephrosis-microcephaly syndrome