intellectual disability, X-linked 102
Findings
No curated finding names intellectual disability, X-linked 102 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
Definition from the Mondo Disease Ontology (MONDO:0010497), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance · X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- Intellectual disabilityHPOHP:0001249
- 38 of 38 reported patients · Female
- 5 of 5 reported patients · Male
- HypotoniaHPOHP:0001252
- 29 of 38 reported patients · Female
- BrachycephalyHPOHP:0000248
- 3 of 5 reported patients · Male
- SpasticityHPOHP:0001257
- 17 of 38 reported patients · Female
- 3 of 5 reported patients · Male
- Broad-based gaitHPOHP:0002136
- 17 of 38 reported patients
- MicrocephalyHPOHP:0000252
- 12 of 38 reported patients · Female
- 2 of 5 reported patients · Male
Show the remaining 15
- Decreased body weightHPOHP:0004325
- 12 of 38 reported patients · Female
- Atypical behaviorHPOHP:0000708
- 1 of 5 reported patients · Male
- Bifid uvulaHPOHP:0000193
- 1 of 5 reported patients · Male
- Dysplastic pulmonary valveHPOHP:0005164
- 1 of 5 reported patients · Male
- SeizureHPOHP:0001250
- 6 of 38 reported patients · Female
- Precocious pubertyHPOHP:0000826
- 5 of 38 reported patients · Female
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.
- DDX3XHGNC:2745
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2019
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 102
- Also called
- DDX3X non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominantintellectual disability, X-linked type 102mental retardation, X-linked type 102non-syndromic X-linked intellectual disability caused by mutation in DDX3X