intellectual disability, X-linked 19
Findings
No curated finding names intellectual disability, X-linked 19 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 RPS6KA3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010447), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance · X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 5 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 6 reported patients · Male
- Thick lower lip vermilionHPOHP:0000179
- 5 of 6 reported patients
- Broad nasal tipHPOHP:0000455
- 4 of 6 reported patients
- Prominent foreheadHPOHP:0011220
- 4 of 6 reported patients
- ScoliosisHPO
Show the remaining 2
- Motor delayHPOHP:0001270
- 1 of 6 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 6 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.
- RPS6KA3HGNC:10432
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 19
- Also called
- intellectual developmental disorder, X-linked 19, X-linked dominantintellectual disability, X-linked type 19mental retardation, X-linked type 19non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3RPS6KA3 non-syndromic X-linked intellectual disability