A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
Ataxia-Telangiectasia Variant 1
[A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99) ( NCI )]
UMLS (CSP) C0398791- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: ataxia telangiectasia
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