| Metadata | |
|---|---|
| ID | DOID:0081385 |
| Name | ataxia-telangiectasia-like disorder-2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24911150/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
PCNA-related progressive neurodegenerative photosensitivity syndrome [EXACT] |
| Parent Relationships |