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
- PAN2-related neurodevelopmental disorder with multiple congenital anomalies
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 Green
- NHS GMS
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Sensorineural hearing impairment
- Abnormality of the genitourinary system
- Abnormality of the cardiovascular system
- Abnormality of blood and blood-forming tissues
- EEG abnormality
- Seizures
- Anorectal anomaly
- Abnormality of the skeletal system
- Abnormality of the eye
- Abnormality of head or neck
Tags
|