ataxia-telangiectasia-like disorder (Q55345773)
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An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
- ATLD
- ATLD1
- ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
- Ataxia-Telangiectasia-Like Disorder type 1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | ataxia-telangiectasia-like disorder |
An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. |
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Statements
334.8
1 reference
C132224
1 reference
Identifiers
1 reference
1 reference
1 reference