intellectual disability, X-linked 63
Findings
No curated finding names intellectual disability, X-linked 63 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 ACSL4 gene.
Definition from the Mondo Disease Ontology (MONDO:0010313), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Childhood onset
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
- 8 of 8 reported patients
- 4 of 4 reported patients · Male
- Delayed speech and language developmentHPOHP:0000750
- 6 of 8 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 8 reported patients
- AnxietyHPOHP:0000739
- 2 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 8 reported patients
- 1 of 4 reported patients · Male
- HypotoniaHPOHP:0001252
- 2 of 8 reported patients · Childhood onset
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.
- ACSL4HGNC:3571
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Strong · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2024
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 63
- Also called
- ACSL4 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 63, X-linked dominantintellectual disability, X-linked type 63mental retardation, X-linked type 63non-syndromic X-linked intellectual disability caused by mutation in ACSL4