- ... Table 2. Disorders to Consider in the Differential Diagnosis of Nijmegen Breakage Syndrome View in own window Disease Name Gene(s) ... the ATM pathogenic variant A-T Fresno have symptoms of both Nijmegen breakage syndrome and ataxia-telangiectasia (A-T) [ Curry et al ...
- ... syndrome. Learn more about the gene associated with Nijmegen breakage ... symptoms of the condition. Other Names for This Condition ...
- ... steps of DNA repair are still incompletely understood. Nijmegen ... ataxia or telangiectasia. Their symptoms overlap with A-T Fresno (see Non-Classic ...
- ... pigmentosum , Cockayne syndrome , and XFE progeroid syndrome. Differential ... breakage syndrome (NBS), characterized by short stature, progressive ...
- ... Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/Warsaw syndrome ... breakage syndrome NBN AR Microcephaly, progressive IUGR w/ ...
- ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 10 ] Previous neoplasm: ...
- ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
- ... microcolon-intestinal hypoperistalsis syndrome Berlin breakage syndrome, see Nijmegen breakage syndrome Bernard-Horner syndrome, see Horner syndrome Bernard-Soulier ...
- ... night blindness Niikawa-Kuroki syndrome, see Kabuki syndrome Nijmegen breakage syndrome NK-AML, see Cytogenetically normal acute myeloid leukemia ...
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