Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Anemia
- Thrombocytopenia
- Growth delay
- Short stature
- Abnormality of the skeletal system
- Abnormality of finger
- Abnormality of the thumb
- Intellectual disability
- Obesity
- Abnormality of the face
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Anemia
- Thrombocytopenia
- Growth delay
- Short stature
- Abnormality of the skeletal system
- Abnormality of finger
- Abnormality of the thumb
- Intellectual disability
- Obesity
- Abnormality of the face
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Anemia
- Thrombocytopenia
- Growth delay
- Short stature
- Abnormality of the skeletal system
- Abnormality of finger
- Abnormality of the thumb
- Intellectual disability
- Obesity
- Abnormality of the face
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Anemia
- Thrombocytopenia
- Growth delay
- Short stature
- Abnormality of the skeletal system
- Abnormality of finger
- Abnormality of the thumb
- Intellectual disability
- Obesity
- Abnormality of the face
|