|
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
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Mental retardation, X-linked 89, 300848
- Mental Retardation, X-linked
|