intellectual disability, X-linked 30
Findings
No curated finding names intellectual disability, X-linked 30 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 PAK3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010361), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
38 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- ClumsinessHPOHP:0002312
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Flat faceHPOHP:0012368
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 26
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Thick upper lip vermilionHPOHP:0000215
- 2 of 2 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 5 of 5 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 5 reported patients
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.
- PAK3HGNC:8592
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2017
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 30
- Also called
- intellectual developmental disorder, X-linked 30, X-linked recessiveintellectual disability, X-linked type 30mental retardation, X-linked type 30non-syndromic X-linked intellectual disability caused by mutation in PAK3PAK3 non-syndromic X-linked intellectual disability