Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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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
- Microcephalic primordial dwarfism, MONDO:0017950
- Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Microcephalic primordial dwarfism, MONDO:0017950
- Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Microcephalic primordial dwarfism, MONDO:0017950
- Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
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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 Green
Phenotypes
- PRIM1-related Primordial Dwarfism
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