Disease #00752

Official abbreviation ICF-1
Name immunodeficiency-centromeric instability-facial anomalies syndrome, type 1 (ICF-1)
OMIM ID 242860
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 1 gene DNMT3B
Associated tissues -
Disease features -
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Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00038674 - PubMed: Hansen 1999 2-generation family, 2 affecteds brothers, unaffected carrier parents M yes Netherlands - - 0 - - ICF-1 - DNMT3B DNMT3B 1 2 Johan den Dunnen
00038675 - PubMed: Hansen 1999 1-generation family, 1 affected, unaffected carrier parents F yes Turkey - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038676 - PubMed: Hansen 1999 2-generation family, 1 affected, unaffected carrier parents F no United States - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038678 - PubMed: Xu 1999 - - yes - - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038679 - PubMed: Xu 1999 - - yes Denmark - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038680 - PubMed: Xu 1999 - - yes Denmark - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038681 - PubMed: Xu 1999 - - no - - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038682 - PubMed: Xu 1999 - - no - - - 0 - - ICF-1 - DNMT3B DNMT3B 5 1 Johan den Dunnen
00038683 - PubMed: Wijmenga 2000 - - no Netherlands Antilles - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038684 - PubMed: Wijmenga 2000 - - yes Lebanon - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038685 - PubMed: Wijmenga 2000 - - no Italy - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038686 - - - - - United Kingdom (Great Britain) - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038687 - PubMed: Wijmenga 2000 - - no Germany - - 0 - - ICF-1 - DNMT3B DNMT3B 2 1 Johan den Dunnen
00038688 - PubMed: Ehrlich 2001 - - - - - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038689 - PubMed: Shirohzu 2002 - M no Japan - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038690 - PubMed: Shirohzu 2002 - F yes Japan - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038691 - PubMed: Shirohzu 2002 - M no Japan - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00038692 - PubMed: Kaya 2010 - - - - - - 0 - - ICF-1 - DNMT3B DNMT3B 1 1 Johan den Dunnen
00100246 Rf1648-2.1 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 1 1 Marlinde L. van den Boogaard
00100247 Rf1840-2.1 PubMed: van den Boogaard 2017 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F no Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 2 2 Marlinde L. van den Boogaard
00100248 Rf1840-2.2 PubMed: van den Boogaard 2017 - M no Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 2 1 Marlinde L. van den Boogaard
00100249 Rf1771-2.1 PubMed: van den Boogaard 2017 6-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 1 3 Marlinde L. van den Boogaard
00100250 Rf1771-4.2 PubMed: van den Boogaard 2017 twin sister of Rf1771-4.3 F yes Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 1 1 Marlinde L. van den Boogaard
00100251 Rf1771-4.3 PubMed: van den Boogaard 2017 twin sister of Rf1771-4.2 F yes Turkey - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 1 1 Marlinde L. van den Boogaard
00100252 Rf1693-2.4 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Argentina - - 0 - IVIG ICF-1 see paper; ... DNMT3B DNMT3B 2 1 Marlinde L. van den Boogaard
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