|
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
- neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057
|
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
- neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY 612100
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
- neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005
|