Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.6
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
- Hypotrichosis-lymphedema-telangiectasia syndrome
- HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
- HLTRS
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Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
- Literature
Phenotypes
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073
- Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
- Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
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Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
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