Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Frontonasal dysplasia type 3 613456
- Frontonasal dysplasia 3 613456
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 3
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
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Sources
Phenotypes
- Frontonasal dysplasia type 3
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 3 136760
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.109
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
- Expert list
Phenotypes
- Frontonasal dysplasia 3, OMIM:613456
- frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Frontonasal dysplasia 3 613456
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- London North GLH
Phenotypes
- Frontonasal dysplasia 3, OMIM:613456
- frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Tags
- Q3_23_promote_green
- Q3_23_NHS_review
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Frontonasal dysplasia 3, 613456
|