Level 2: Viral research
Version 1.142
|
review
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Unknown
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Sources
- Expert Review Amber
- OMIM
- Expert list
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Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Cleft lip/palate-ectodermal dysplasia syndrome, 225060
- Orofacial cleft 7, 225060
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Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cleft lip/palate-ectodermal dysplasia syndrome, 225060
- Orofacial cleft 7, 225060
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
- Orofacial cleft 7, OMIM:225060
|
Version 3.90
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 Red
Phenotypes
- CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cleft lip/Palate ectodermal dysplasia syndrome, 225060
- Orofacial cleft 7, 225060
- Cleft Lip with or without Cleft Palate
- Zlotogora-Ogur syndrome
- CLP, partial syndactyly of digits, intellectual disability, dysmorphism
- Ectodermal dysplasia, Margarita Island type
- Cleft lip
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060
- CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Orofacial cleft 7, 225060
- Cleft lip/palate-ectodermal dysplasia syndrome, 225060
|