ataxia-telangiectasia-like disorder 2

info · Genetic

An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.

Signs and symptoms

Cutaneous photosensitivity
Short stature
Cerebellar atrophy
Global developmental delay
Ataxia
Cutaneous telangiectasia
Neurodegeneration
Sensorineural hearing impairment
Photophobia
Unsteady gait

Also known as: PCNA-related progressive neurodegenerative photosensitivity syndrome