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GENATLAS PHENOTYPE

last update : 26-10-2018

Symbol	ICF4
Location	10q23.33
Name	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Corresponding gene	HELLS
Main clinical features	characterized by recurrent infections in childhood and variable dysmorphic facial features laboratory studies show hypomethylation of certain chromosomal regions; additional features, including delayed development, are variable
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)

. ZBTB24, CDCA7 and HELLS mutations affect CpG-poor regions with heterochromatin features (PMID: 29659838))