Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert review
Phenotypes
- Neonatal diabetes
- Neonatal insulin-dependent diabetes mellitus, HP:0000857
- severe neurodevelopmental delay, HP:0012758
- skeletal abnormalities.
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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
- Expert Review Amber
- Expert review
Phenotypes
- Neonatal diabetes
- Neonatal insulin-dependent diabetes mellitus, HP:0000857
- severe neurodevelopmental delay, HP:0012758
- skeletal abnormalities.
Tags
|