intellectual disability, X-linked 72
MONDO:0010289Mondo
Findings
No curated finding names intellectual disability, X-linked 72 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients · Male
- MacrocephalyHPOHP:0000256
- 6 of 9 reported patients
- Short statureHPOHP:0004322
- 4 of 9 reported patients
- SeizureHPOHP:0001250
- 3 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 9 reported patients
- Global developmental delayHPOHP:0001263
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RAB39BHGNC:16499
- Definitive · G2P · X-linked · 2015
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
Other names
3 names
Resolves to: intellectual disability, X-linked 72
- Also called
- intellectual developmental disorder, X-linked 72, X-linked recessiveintellectual disability, X-linked type 72mental retardation, X-linked type 72