15q11q13 microduplication syndrome
MONDO:0012081Mondo
Findings
No curated finding names 15q11q13 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
Definition from the Mondo Disease Ontology (MONDO:0012081), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- EcholaliaHPOHP:0010529
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- Very frequent (80% to 99% of cases)
- Inflexible adherence to routinesHPOHP:0000732
- 1 of 1 reported patient
Show the remaining 17
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- Compulsive behaviorsHPOHP:0000722
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- ApraxiaHPOHP:0002186
- Frequent (30% to 79% of cases)
Where it sits
Other names
8 names
Resolves to: 15q11q13 microduplication syndrome
- Also called
- 15q11-q13 duplication syndrome15q11-q13 microduplication syndrome15q11q13 duplication syndromeautism susceptibility 4dup(15)(q11q13)Dup15qtrisomy 15q11-q13trisomy 15q11q13