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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- ?Beukes Hip Dysplasia OMIM:142669
- hip dysplasia, Beukes type MONDO:0007726
- ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974
- spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2
(13 Feb 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Poor weight gain
- microcephaly
- epilepsy
- developmental delay
- lack of speech
- intellectual disability
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Abnormal muscle tone
- Seizures
- Global developmental delay
- Delayed speech and language development
- Intellectual disability
- Strabismus
Tags
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