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PedAM

Pediatric Disease Annotations & Medicines




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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