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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Congenital disorder of glycosylation
- Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
- skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(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
- Expert Review Green
- Expert Review
Phenotypes
- Desbuquois dysplasia with mild joint laxity
- non-proportionate short stature
- Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
- skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Congenital disorder of glycosylation
- Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
- skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
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