Overview
15q11q13 microduplication syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Echologia
Always present (100%)HP:0010529
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Impaired ability to form peer relationships
Always present (100%)HP:0000728
Inflexible adherence to routines
Always present (100%)HP:0000732
Instability or lack of coordination of central trunk muscles
Always present (100%)HP:0002078
Mental retardation, severe
Always present (100%)HP:0010864
Poor eye contact
Always present (100%)HP:0000817
Reduced social responsiveness
Always present (100%)HP:0012760
Stimming
Always present (100%)HP:0000733
Unsteady walk
Always present (100%)HP:0002317
Central hypotonia
Very frequent (80-99%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Mental and motor retardation
Very frequent (80-99%)HP:0001263
OCD
Very frequent (80-99%)HP:0000722
Poor school performance
Very frequent (80-99%)HP:0001249
Speech difficulties
Very frequent (80-99%)HP:0000750
Apraxia
Frequent (30-79%)HP:0002186
Autism
Frequent (30-79%)HP:0000717
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Increased serum serotonin
Frequent (30-79%)HP:0003144
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Seizures
Frequent (30-79%)HP:0001250
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Ataxia
Occasional (5-29%)HP:0001251
Decreased body height
Occasional (5-29%)HP:0004322
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Large head
Occasional (5-29%)HP:0000256
Ligamentous laxity
Occasional (5-29%)HP:0001382
Mask-like facies
Occasional (5-29%)HP:0000298
Palpebronasal fold
Occasional (5-29%)HP:0000286
Quick Facts
- SNOMED CT
- 719427001
- UMLS CUI
- C2675336
- Fully Specified Name
- 15q11q13 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.