cerebellar ataxia type 47

An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in

An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Toe syndactyly
• Hypotonia
• Appendicular hypotonia
• Sparse eyebrow
• Thin corpus callosum
• Hypertelorism
• Intellectual disability
• Hirsutism
• Hyporeflexia

Also known as: PUM1-associated developmental disability-ataxia-seizure syndrome; SCA47