Overview
17p13.3 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.
Frontal protuberance
Very frequent (80-99%)HP:0002007
High forehead
Very frequent (80-99%)HP:0000348
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased nasal width
Very frequent (80-99%)HP:0000445
Narrow mouth
Very frequent (80-99%)HP:0000160
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Low-set ears
Frequent (30-79%)HP:0000369
Short neck
Frequent (30-79%)HP:0000470
Accelerated linear growth
Occasional (5-29%)HP:0000098
Congenital hip dislocations
Occasional (5-29%)HP:0001374
Curvature of little finger
Occasional (5-29%)HP:0004209
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
High arched palate
Occasional (5-29%)HP:0000218
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypoplasia of penis
Occasional (5-29%)HP:0008736
Inguinal hernia
Occasional (5-29%)HP:0000023
Related Conditions
Quick Facts
- SNOMED CT
- 719582007
- UMLS CUI
- C4304641
- Fully Specified Name
- 17p13.3 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.