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Items: 6

1.

Ataxia

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
2.

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from OMIM]

MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
3.

Telangiectasia

MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
4.

Cerebellar ataxia

MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
5.

Posterior segment vascular anomalies

MedGen UID:
662233
Concept ID:
C0578832
Congenital Abnormality
6.

Hypometric saccades

MedGen UID:
98065
Concept ID:
C0423082
Finding
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