| Metadata | |
|---|---|
| ID | DOID:0081384 |
| Name | ataxia-telangiectasia-like disorder-1 |
| Definition | An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. https://pubmed.ncbi.nlm.nih.gov/10612394/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |