intellectual disability, X-linked 21
Findings
No curated finding names intellectual disability, X-linked 21 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 IL1RAPL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010256), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Joint hypermobilityHPOHP:0001382
- 5 of 5 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 3 of 3 reported patients
- Mandibular prognathiaHPOHP:0000303
- 4 of 5 reported patients
- SynophrysHPOHP:0000664
- 3 of 5 reported patients
- Hypernasal speechHPOHP:0001611
- 2 of 5 reported patients
- ImpulsivityHPOHP:0100710
- 2 of 5 reported patients
- SeizureHPOHP:0001250
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.
- IL1RAPL1HGNC:5996
- Definitive · Ambry Genetics · X-linked · 2025
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 21
- Also called
- IL1RAPL1 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 21, X-linked recessiveintellectual disability, X-linked type 21mental retardation, X-linked type 21non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1