ataxia-telangiectasia-like disorder-1

Term ID

DOID:0081384

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. https://pubmed.ncbi.nlm.nih.gov/10612394/

References

• OMIM:604391
• ORDO:251347

Ontology

Human Disease   ( DOID:0081384 )