intellectual developmental disorder, X-linked 114
MONDO:0975828Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked 114 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Infantile onset · Young adult onset · Second trimester onset
HPO, annotations 2026-09-02
Features
25 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.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 5 of 6 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 4 of 5 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 3 of 4 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 3 of 4 reported patients
- Short attention spanHPOHP:0000736
- 2 of 3 reported patients
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- ColpocephalyHPOHP:0030048
- 2 of 4 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 4 of 8 reported patients
Show the remaining 13
- VertigoHPOHP:0002321
- 2 of 4 reported patients
- Emotional labilityHPOHP:0000712
- 1 of 3 reported patients
- Borderline intellectual disabilityHPOHP:0006889
- 2 of 8 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Limb dystoniaHPOHP:0002451
- 1 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 4 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.
- SRPK3HGNC:11402
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2025