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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ataxia telangiectasia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H1B5 | Xylosyltransferase 2 |
