Nijmegen-Breakage-ähnliches Syndrom
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
OMIM: 611291
Synonyme
- SCID
- autosomal recessive
- T CELL-NEGATIVE
- B CELL-NEGATIVE
- NK CELL-POSITIVE
- WITH MICROCEPHALY
- GROWTH RETARDATION
- AND SENSITIVITY TO IONIZING RADIATION NHEJ1 SYNDROME
Gen locations
- NHEJ1(OMIM 611290)