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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
Phenotypes
- amelogenesis imperfecta (non-syndromic form)
- Amelogenesis imperfecta, type IH, 616221
- Amelogenesis imperfecta, type IH, 616221
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Alopecia with mental retardation (APMR)
- mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities
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