intellectual disability, X-linked 105
Findings
No curated finding names intellectual disability, X-linked 105 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 USP27X gene.
Definition from the Mondo Disease Ontology (MONDO:0010510), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Absent speechHPOHP:0001344
- Atypical behaviorHPOHP:0000708
- Intellectual disabilityHPOHP:0001249
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.
- USP27XHGNC:13486
- Strong · Ambry Genetics · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
7 names
Resolves to: intellectual disability, X-linked 105
- Also called
- intellectual developmental disorder, X-linked 105, X-linked recessiveintellectual disability, X-linked type 105mental retardation, X-linked 105mental retardation, X-linked type 105MRX105non-syndromic X-linked intellectual disability caused by mutation in USP27XUSP27X non-syndromic X-linked intellectual disability