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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
- craniosynostosis, MONDO:0015469
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY 612100
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603
- Global developmental delay
- Generalized hypotonia
- Feeding difficulties
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603
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