Ataxia-telangiectasia-like disorder 2
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.
Name | Development Level | Target Family |
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Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease