intellectual disability, X-linked 99
Findings
No curated finding names intellectual disability, X-linked 99 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 USP9X gene.
Definition from the Mondo Disease Ontology (MONDO:0010487), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Broad thumbHPOHP:0011304
- 2 of 5 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 5 reported patients
- Broad halluxHPOHP:0010055
- 1 of 5 reported patients
- Chronic constipationHPOHP:0012450
Show the remaining 5
- Joint hypermobilityHPOHP:0001382
- 1 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 5 reported patients
- Relative macrocephalyHPOHP:0004482
- 1 of 5 reported patients
- TracheomalaciaHPOHP:0002779
- 1 of 5 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.
- USP9XHGNC:12632
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 99
- Also called
- intellectual developmental disorder, X-linked 99, X-linked recessiveintellectual disability, X-linked type 99mental retardation, X-linked type 99non-syndromic X-linked intellectual disability caused by mutation in USP9XUSP9X non-syndromic X-linked intellectual disability