Conditions / Syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
info · Syndrome
A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3.
Signs and symptoms
- Cerebellar atrophy
- Global developmental delay
- Abnormality of the neck
- Short foot
- Strabismus
- Dysmetria
- Short stature
- Gait ataxia
- Global brain atrophy
- Ataxia
Also known as: CAMRQ syndrome 2; CAMRQ2; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2; cerebellar ataxia, mental retardation, and disequilibrium syndrome 2; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2