distal Xq28 microduplication syndrome
Findings
No curated finding names distal Xq28 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0017404), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal central sensory functionHPOHP:0011730
- Very frequent (80% to 99% of cases)
- Absent antihelixHPOHP:0011234
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Very frequent (80% to 99% of cases)
- AnxietyHPOHP:0000739
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
Show the remaining 31
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Dental crowdingHPOHP:0000678
- Very frequent (80% to 99% of cases)
- DepressionHPOHP:0000716
- Very frequent (80% to 99% of cases)
- EpistaxisHPOHP:0000421
- Very frequent (80% to 99% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: distal Xq28 microduplication syndrome
- Also called
- distal dup(X)q(28)distal trisomy Xq28Xq28 Microduplication