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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
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review
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Not set
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Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Night blindness, congenital stationary autosomal dominant 1
- Retinitis pigmentosa
- Retinitis punctata albescens
- Congenital Stationary Night Blindness
- Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
- Retinitis Pigmentosa, Dominant/Recessive
- Retinitis pigmentosa
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
- Fundus albipunctatus, 136880
- Night blindness, congenital stationary, autosomal dominant 1, 610445
- Eye Disorders
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