Disease #03019 (immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291)

Official abbreviation -
Name immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation
OMIM ID 611291
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene NHEJ1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-06-15 13:11:44 +02:00 (CEST)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00435480 Pat1 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents - no France - 18y - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., 18-y died septic shock; microcephaly; growth retardation; chromosomal alterations, urogenital and bone malformations; bacterial and opportunistic infections; autoimmune anemia, thrombocytopenia NHEJ1 NHEJ1 2 1 Johan den Dunnen
00435481 Pat2 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents (1st degree cousins)/relatives, 3 older sisters died from severe infections during first year of life - yes Turkey - 04y - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., 4-y died septic shock; microcephaly; growth retardation; infections bacterial and opportunistic; no autoimmunity NHEJ1 NHEJ1 1 1 Johan den Dunnen
00435482 Pat3 PubMed: Buck 2006 2-generation family, 2 affected sibs, unaffected heterozygous parents (1st degree cousins)/relatives - yes Turkey - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face, bone malformation; infections bacterial and opportunistic; autoimmune anemia, thrombocytopenia NHEJ1 NHEJ1 1 2 Johan den Dunnen
00435483 Pat4 PubMed: Buck 2006 sib - yes Turkey - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face; infections bacterial and opportunistic; no autoimmunity NHEJ1 NHEJ1 1 1 Johan den Dunnen
00435484 Pat5 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents (3rd degree cousins)/relatives - yes Italy - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face, chromosomal alterations, bone marrow aplasia; recurrent respiratory tract infections; no autoimmunity NHEJ1 NHEJ1 1 1 Johan den Dunnen
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