Term Name: | ataxia-telangiectasia-like disorder-1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081384] ( DOID:0081384 ) |