Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PPP1R21-related neurodevelopmental disorder
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383
Tags
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology
- Hepatosplenomegaly
- Abnormality of the respiratory system
|