intellectual disability, X-linked 9
Findings
No curated finding names intellectual disability, X-linked 9 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 FTSJ1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010660), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 14 of 14 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 4 of 4 reported patients
- MacrotiaHPOHP:0000400
- 3 of 4 reported patients
- Aggressive behaviorHPOHP:0000718
- 5 of 14 reported patients
- AutismHPOHP:0000717
- 1 of 3 reported patients · Infantile onset
- Delayed gross motor developmentHPO
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.
- FTSJ1HGNC:13254
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2018
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 9
- Also called
- FTSJ1 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 9, X-linked recessiveintellectual disability, X-linked type 9mental retardation, X-linked type 9non-syndromic X-linked intellectual disability caused by mutation in FTSJ1