Xq12-q13.3 duplication syndrome
Findings
No curated finding names Xq12-q13.3 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Definition from the Mondo Disease Ontology (MONDO:0017794), read 2026-09-29. CC BY 4.0.
Features
38 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.
- 2-3 toe syndactylyHPOHP:0004691
- Very frequent (80% to 99% of cases)
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Very frequent (80% to 99% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Very frequent (80% to 99% of cases)
- AgitationHPOHP:0000713
- Very frequent (80% to 99% of cases)
- Anterior creases of earlobeHPOHP:0009908
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
Where it sits
Other names
1 name
Resolves to: Xq12-q13.3 duplication syndrome
- Also called
- dup(X)(q12-q13.3)