intellectual disability, X-linked 100
Findings
No curated finding names intellectual disability, X-linked 100 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 KIF4A gene.
Definition from the Mondo Disease Ontology (MONDO:0010488), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 5 reported patients · Juvenile onset
- Generalized non-motor (absence) seizureHPOHP:0002121
- 4 of 5 reported patients · Juvenile onset
- Abnormal facial shapeHPOHP:0001999
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.
- KIF4AHGNC:13339
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Illumina · X-linked · 2022
- Limited · Ambry Genetics · X-linked · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 100
- Also called
- intellectual developmental disorder, X-linked 100, X-linked recessiveintellectual disability, X-linked type 100KIF4A non-syndromic X-linked intellectual disabilitymental retardation, X-linked type 100non-syndromic X-linked intellectual disability caused by mutation in KIF4A