Xq25 microduplication syndrome
MONDO:0010507Mondo
Findings
No curated finding names Xq25 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
22 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
- 33 of 33 reported patients
- Malar flatteningHPOHP:0000272
- 23 of 27 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the palpebral fissuresHPOHP:0008050
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- 4 of 15 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Facial hypotoniaHPOHP:0000297
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
Show the remaining 10
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 10 of 31 reported patients
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)
- Sparse eyebrowHPOHP:0045075
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.
- STAG2HGNC:11355
- Limited · Ambry Genetics · X-linked · 2025
Where it sits
Other names
1 name
Resolves to: Xq25 microduplication syndrome
- Also called
- Xq25 duplication syndrome