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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ataxia-telangiectasia-like disorder-2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0081385
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
