intellectual disability, X-linked 103
Findings
No curated finding names intellectual disability, X-linked 103 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 KLHL15 gene.
Definition from the Mondo Disease Ontology (MONDO:0010508), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
Show the remaining 2
- Short palmHPOHP:0004279
- 1 of 1 reported patient
- Wide mouthHPOHP:0000154
- 1 of 1 reported patient
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.
- KLHL15HGNC:29347
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · G2P · X-linked · 2025
Where it sits
Other names
7 names
Resolves to: intellectual disability, X-linked 103
- Also called
- intellectual developmental disorder, X-linked 103, X-linked recessiveintellectual disability, X-linked type 103KLHL15 non-syndromic X-linked intellectual disabilitymental retardation, X-linked 103mental retardation, X-linked type 103MRX103non-syndromic X-linked intellectual disability caused by mutation in KLHL15