Version 0.36
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- SFARI
Phenotypes
- Intellectual developmental disorder, autosomal dominant 64, OMIM:619188
- intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
|
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ZNF292-related developmental disorder (monoallelic)
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Literature
- Radboud University Medical Center, Nijmegen
Phenotypes
- Intellectual developmental disorder, autosomal dominant 64, OMIM:619188
- intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Next Generation Children Project
- Expert list
Phenotypes
- Intellectual developmental disorder, autosomal dominant 64, OMIM:619188
- intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
|