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200900 - SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
Gene summaries Genetic tests Medical literature
#611291 - SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED
Cytogenetic locations: 607652
#602450 - SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
#600802 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
Cytogenetic locations: -
#617237 - IMMUNODEFICIENCY 49; IMD49
Cytogenetic locations: ######
#615615 - IMMUNODEFICIENCY 18; IMD18
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED
#267500 - RETICULAR DYSGENESIS
Cytogenetic locations: 611906
#615617 - IMMUNODEFICIENCY 19; IMD19
Cytogenetic locations: 11q23.1
#619924 - IMMUNODEFICIENCY 105; IMD105
#603554 - OMENN SYNDROME
Cytogenetic locations: epilepsy, Centrotemporal, 1p36
#601457 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
Cytogenetic locations: 1p36, 11p13-p12
#608971 - IMMUNODEFICIENCY 104; IMD104
Cytogenetic locations: 5p13.3
#300400 - SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
Cytogenetic locations: Xp11.22
#209920 - BARE LYMPHOCYTE SYNDROME, TYPE II
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED
Cytogenetic locations: 1p36, 1p36, 1p36, 1p36
#102700 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED
%274190 - THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
*605988 - DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C
Cytogenetic locations: #\e###
*308380 - INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG
*608958 - ADENOSINE DEAMINASE; ADA
Cytogenetic locations: CHMP4B
*179616 - RECOMBINATION-ACTIVATING GENE 2; RAG2
Cytogenetic locations: 612469
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