Term Name: ataxia-telangiectasia-like disorder-2
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.
Ontology: Human Disease [DOID:0081385]   ( DOID:0081385 )

Relationships
is a type of: autosomal recessive cerebellar ataxia