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Summary Literature (0)
DOID:0081385 - ataxia-telangiectasia-like disorder-2

Disease Ontology 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.

Synonyms: PCNA-related progressive neurodegenerative photosensitivity syndrome,

Xenbase Genes : pcna

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive cerebellar ataxia (is_a)