intellectual disability, X-linked 41
Findings
No curated finding names intellectual disability, X-linked 41 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010451), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance · X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
7 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
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients · Male
- Specific learning disabilityHPOHP:0001328
- 2 of 4 reported patients · Female
- Mild intellectual disabilityHPOHP:0001256
- 2 of 5 reported patients · Female
- Axial hypotoniaHPOHP:0008936
- 1 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 9 reported patients
- Global developmental delay
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.
- GDI1HGNC:4226
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2023
- Limited · G2P · X-linked · 2020
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 41
- Also called
- GDI1 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 41, X-linked dominantintellectual disability, X-linked type 41mental retardation, X-linked type 41non-syndromic X-linked intellectual disability caused by mutation in GDI1