cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.

Signs and symptoms

• Truncal ataxia
• Corpus callosum atrophy
• Cerebellar atrophy
• Cerebral cortical atrophy
• Dysarthria
• Intellectual disability
• Cerebellar ataxia associated with quadrupedal gait
• Inability to walk

Also known as: CAMRQ syndrome 4; CAMRQ4; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4; cerebellar ataxia, mental retardation, and disequilibrium syndrome 4; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4