Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.13
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Other
Phenotypes
- Hereditary hypotrichosis simplex (HHS)
- Hypotrichosis simplex (HS)
- localized autosomal recessive hypotrichosis-1 (LAH1)
- Autosomal recessive hypotrichosis
- Hypotrichosis 6, 607903
- HYPT6
- Localized AR Hypotrichosis
- localized autosomal recessive hypotrichosis
- Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
Tags
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Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- HYPT6
- localized autosomal recessive hypotrichosis-1 (LAH1)
- Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
- Autosomal recessive hypotrichosis
- Hereditary hypotrichosis simplex (HHS)
- Localized AR Hypotrichosis
- localized autosomal recessive hypotrichosis
- Hypotrichosis 6, 607903
- Hypotrichosis simplex (HS)
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Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
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