Disease | microcephaly |
Symptom | C0021051|immunodeficiency |
Sentences | 3 |
PubMedID- 22373003 | Patients manifesting microcephaly with normal intelligence, immunodeficiency, and an unprecedentedly strong predisposition to lymphoreticular malignancies were reported in 1985 as the seemanova syndrome ii . |
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. |
PubMedID- 24027040 | The clinical presentation, especially the immunodeficiency together with microcephaly was suggestive for a nhej defect. |
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