Overview
16p11.2p12.2 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.
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Autism
Occasional (5-29%)HP:0000717
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cleft of palate
Occasional (5-29%)HP:0000175
Dystonic movements
Occasional (5-29%)HP:0001332
Epilepsy
Occasional (5-29%)HP:0001250
Hypospadias
Occasional (5-29%)HP:0000047
Language impairment
Occasional (5-29%)HP:0002463
Mental and motor retardation
Occasional (5-29%)HP:0001263
Near sighted
Occasional (5-29%)HP:0000545
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Pectus excavatum
Occasional (5-29%)HP:0000767
Psychosis
Occasional (5-29%)HP:0000709
Schizophrenia
Occasional (5-29%)HP:0100753
Quick Facts
- SNOMED CT
- 733518000
- UMLS CUI
- C4518821
- Fully Specified Name
- 16p11.2p12.2 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.