nonprogressive cerebellar ataxia with mental retardation

An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the C

An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.

Signs and symptoms

• Mild intellectual disability
• Global developmental delay
• Hippocampal atrophy
• Broad forehead
• Unsteady gait
• Bulbous nose
• Delayed speech and language development
• Posteriorly rotated ears
• Intellectual disability
• Chronic constipation