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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
Phenotypes
- 46, XY sex reversal 11, 273250
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Intellectual Disability and Central Nervous System anomalies
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Tags
- Q1_24_MOI
- Q1_24_NHS_review
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