ataxia-telangiectasia-like disorder-2 (DOID:0081385)
Alliance: disease page
Synonyms: PCNA-related progressive neurodegenerative photosensitivity syndrome
Alt IDs: OMIM:615919, ORDO:438134
Definition: 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.