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ataxia-telangiectasia-like disorder 2

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity.
Mondo Term and Equivalent IDs
MONDO:0014399:  ataxia-telangiectasia-like disorder 2
Orphanet:438134: 
UMLS:C4014676: