syndromic X-linked intellectual disability 14
Findings
No curated finding names syndromic X-linked intellectual disability 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.
Definition from the Mondo Disease Ontology (MONDO:0010398), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 11 reported patients
- Narrow faceHPOHP:0000275
- 7 of 11 reported patients
- Slender buildHPOHP:0001533
- 7 of 11 reported patients
- High palateHPOHP:0000218
- 6 of 11 reported patients
- Long faceHPOHP:0000276
- 6 of 11 reported patients
- Prominent nasal bridgeHPOHP:0000426
Show the remaining 11
- Long palmHPOHP:0011302
- 3 of 11 reported patients
- ScoliosisHPOHP:0002650
- 3 of 11 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 11 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 11 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 11 reported patients
- Prominent foreheadHPOHP:0011220
- 2 of 11 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.
- UPF3BHGNC:20439
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
Other names
8 names
Resolves to: syndromic X-linked intellectual disability 14
- Also called
- intellectual developmental disorder, X-linked syndromic 14, X-linked recessiveintellectual disability, X-linked, syndromic 14intellectual disability, X-linked, syndromic type 14mental retardation, X-linked, syndromic 14mental retardation, X-linked, syndromic type 14syndromic X-linked intellectual disability type 14UPF3B X-linked syndromic intellectual disabilityX-linked syndromic intellectual disability caused by mutation in UPF3B