Human genes for ataxia telangiectasia
Ataxia telangiectasia [DOID:12704]
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.
Synonyms: ataxia telangiectasia, ataxia telangiectasias, DOID:12704, Boder-Sedgwick syndrome, Louis Bar syndrome ...