ataxia-telangiectasia-like disorder-2

Term ID

DOID:0081385

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. https://pubmed.ncbi.nlm.nih.gov/24911150/

References

• OMIM:615919
• ORDO:438134

Ontology

Human Disease   ( DOID:0081385 )