NHEJ1 SYNDROME

IMD124

SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION

SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY

SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION

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IMMUNODEFICIENCY 124, SEVERE COMBINED

Onset in infancy or early childhood [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

Caused by mutation in the nonhomologous end-joining factor 1 gene (NHEJ1, 611290.0001) [MOLECULAR BASIS]

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T047

2q35

Phenotype description, molecular basis known.

611291

C1969799

3

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