Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0081385 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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