Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Leukocyte adhesion deficiency 116920
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
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review
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Unknown
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Sources
- Expert Review Amber
- Expert list
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Level 2: Viral research
Version 1.142
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Delayed cord separation, skin ulcers, periodontitis, leukocytosis
- Leukocyte adhesion deficiency type I
- Congenital defects of phagocyte number or function
- LAD
- Leukocyte adhesion deficiency, 116920
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Leukocyte adhesion deficiency, 116920
- LAD
- Leukocyte adhesion deficiency type I
- Delayed cord separation, skin ulcers, periodontitis, leukocytosis
- Congenital defects of phagocyte number or function
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leukocyte adhesion deficiency, 116920
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