|
Version 0.22
|
review
|
Not set
|
Sources
|
|
Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
|
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Weiss-Kruszka syndrome, OMIM:618619
- weiss-kruszka syndrome, MONDO:0032836
|
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Amber
Phenotypes
- Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review
- Expert Review Green
- Expert Review Green
- Expert Review
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Prominent metopic ridge
- Ptosis
- Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior
- Intellectual disability
- Global developmental delay
- Craniosynostosis
- Autistic behavior
|
|
Version 1.127
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Weiss-Kruszka syndrome, 618619
|