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SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY
(OMIM ID: 611291)

Known also as: (SCID), AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION; (NHEJ1 SYNDROME)


SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation (IR) is caused by mutation in the NHEJ1 gene. A presumably hypomorphic mutation in the NHEJ1 gene results in SCID with sensitivity to ionizing radiation, but without microcephaly or growth retardation.


DNA repair proteins related with SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY (611291) disease:
Following keywords are related to SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY:

Last modification of this entry: Oct. 11, 2010.

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