Disease #04276 (ICF4 (immunodeficiency-centromeric instability-facial anomalies syndrome, type 4 (ICF-4)), OMIM:603946)

Official abbreviation ICF4
Name immunodeficiency-centromeric instability-facial anomalies syndrome, type 4 (ICF-4)
OMIM ID 603946
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HELLS
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2015-05-21 10:28:57 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00038702 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents M yes France - >17y - - - ICF4 facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis, pneumonia); IgG 0.91 g/l, IgA <0.04 g/l, IgM 0.04 g/l; cytogenetic abnormalities include translocations, deletions HELLS HELLS 1 1 Peter Thijssen
00038703 - PubMed: Thijssen 2015 2-generation family, unaffected heterozygous carrier parents F no Italy - >05y - - - ICF4 facial anomalies (HP:0001999), no gastrointestinal problems, infections (bronchitis); IgA <0.04 g/l, IgM <0.04 g/l; cytogenetic abnormalities include rosettes HELLS HELLS 2 1 Peter Thijssen
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