Conditions / Syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
info · Syndrome
A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.
Signs and symptoms
- Strabismus
- Inferior cerebellar vermis hypoplasia
- Pes planus
- Intellectual disability
- Truncal ataxia
- Cerebellar hypoplasia
- Delayed ability to walk
- Lower limb hyperreflexia
- Dysarthria
- Global developmental delay
Also known as: CAMRQ syndrome 1; CAMRQ1; DES-VLDLR; VLDLR cerebellar hypoplasia; VLDLR-CH