Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- Literature
- London North GLH
- NHS GMS
- North West GLH
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Expert Review Green
- Literature
Phenotypes
- ICF
- recurrent respiratory infections
- ICF3
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
- immunodeficiency, centromeric instability, facial anomalies syndrome type 3
- hypogammaglobulinaemia
- enteropathy
- Combined immunodeficiencies with associated or syndromic features
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Immunodeficiency-centromeric instability-facial anomalies syndrome
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Expert Review Green
- Literature
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome
- ICF
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
- ICF3
- immunodeficiency, centromeric instability, facial anomalies syndrome type 3
- recurrent respiratory infections
- hypogammaglobulinaemia
- enteropathy
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Combined immunodeficiencies with associated or syndromic features
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
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