Term Name: | ataxia-telangiectasia-like disorder-2 |
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Synonyms: | PCNA-related progressive neurodegenerative photosensitivity syndrome |
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. |
Ontology: | Human Disease [DOID:0081385] ( DOID:0081385 ) |