Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3
Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder 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 (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).
Genes related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3
Clinical FeaturesTop most frequent phenotypes and symptoms related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Growth delay
- Abnormal facial shape
And another 16 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 3; Icf3 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics (United States).
Primary Immunodeficiency Panel.
By Blueprint Genetics (Finland).
RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)
View the complete list with 253 more genes
By Laboratorio de Genetica Clinica SL (Spain).
CDCA7, ZBTB24, DNMT3B, HELLS
You can get up to -5 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Genetic Syndrome Finder
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