Term Name:	ataxia telangiectasia
Synonyms:	Boder-Sedgwick syndrome, Louis Bar syndrome
Definition:	An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
Ontology:	Human Disease [DOID:12704]   ( DOID:12704 )