Version: 8.0.0
Date: Tue Jan 28 2025
ataxia telangiectasia
DOID:12704
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

ataxia telangiectasia

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.
Synonyms
  • Boder-Sedgwick syndrome
  • Louis Bar syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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