Conditions / Syndrome
Galloway-Mowat syndrome 6
info ยท Syndrome
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22.
Signs and symptoms
- Decreased body weight
- Anteverted nares
- Short stature
- Sleep disturbance
- Motor delay
- Motor stereotypy
- Intellectual disability
- Cerebellar vermis atrophy
- Microcephaly
- Delayed speech and language development