GenTIGSA Gene Database on Rare Genetic Disorders
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Ataxia-telangiectasia Syndrome  
Disease Aliases (32)

At, complementation group a

At, complementation group c

At, complementation group d

At, complementation group e

At1

Ataxia-telangiectasia variant

Ataxia-telangiectasia, complementation group a

Ataxia-telangiectasia, fresno variant

Atc

Atd

Ate

Atm

Ataxia telangiectasia syndrome

Ataxia telangiectasia

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia, complementation group d

Ataxia-telangiectasia, complementation group e

Boder-sedgwick syndrome

Cerebello-oculocutaneous telangiectasia

Immunodeficiency with ataxia telangiectasia

Louis-bar syndrome

Louis bar syndrome

Syndrome, ataxia telangiectasia

Syndrome, louis-bar

Telangiectasia, cerebello-oculocutaneous

Ataxia - telangiectasia

Ataxia - telangiectasia variant

Ataxia-telangiectasia; at

Associated Genes (1)
 

NCBI-RefSeq:  ATM   (ATM serine/threonine kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Ataxia-telangiectasia syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations