Overview
17q21.31 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.
Autism
Very frequent (80-99%)HP:0000717
Ear anomalies
Very frequent (80-99%)HP:0000356
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental-retardation
Very frequent (80-99%)HP:0001249
ASD
Frequent (30-79%)HP:0000729
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Generalized hirsutism
Frequent (30-79%)HP:0002230
High arched palate
Frequent (30-79%)HP:0000218
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nostrils anteverted
Frequent (30-79%)HP:0000463
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Small nose
Frequent (30-79%)HP:0003196
Syndactyly of feet
Frequent (30-79%)HP:0001770
Tooth abnormalities
Frequent (30-79%)HP:0000164
Zygomatic flattening
Frequent (30-79%)HP:0000272
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Decreased size of cranium
Occasional (5-29%)HP:0000252
Delayed puberty
Occasional (5-29%)HP:0000823
OCD
Occasional (5-29%)HP:0000722
Palpebronasal fold
Occasional (5-29%)HP:0000286
Poor weight gain
Occasional (5-29%)HP:0001508
Space between great toe and second toe
Occasional (5-29%)HP:0001852
Thick eyebrow
Occasional (5-29%)HP:0000574
Unibrow
Occasional (5-29%)HP:0000664
Related Conditions
Quick Facts
- SNOMED CT
- 716683005
- UMLS CUI
- C4274345
- Fully Specified Name
- 17q21.31 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.