eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Symptom | C0021051|immunodeficiency |
| Sentences | 3 |
| PubMedID- 22373003 | After excluding mutations in the nbn gene, confirmation of hypersensitivity to ir using csa or rds assays strongly suggests evaluation for another dna repair disease, such as ligase iv deficiency (lig4 syndrome), severe combined immunodeficiency with microcephaly (nhej1 syndrome), nbs-like disease (nbsld), or ataxia telangiectasia like disease (atld) . |
| PubMedID- 24027040 | The clinical presentation, especially the immunodeficiency together with microcephaly was suggestive for a nhej defect. |
| PubMedID- 22078571 | Hoyeraal-hreidarsson syndrome (hh) is a severe variant of dc in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and growth retardation. |
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