Overview
20q11.2 microdeletion 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.
Deep set eye
Always present (100%)HP:0000490
Psychomotor development deficiency
Always present (100%)HP:0001263
High forehead
Very frequent (80-99%)HP:0000348
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Abnormal eye
Frequent (30-79%)HP:0000478
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Brainstem hypoplasia/dysplasia
Frequent (30-79%)HP:0002508
Camptodactyly
Frequent (30-79%)HP:0012385
Curvature of finger
Frequent (30-79%)HP:0040019
Deafness
Frequent (30-79%)HP:0000365
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Ear anomaly
Frequent (30-79%)HP:0000598
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased distance between eyes
Frequent (30-79%)HP:0000316
Muscular hypotonia
Frequent (30-79%)HP:0001252
Small midface
Frequent (30-79%)HP:0011800
Talipes calcaneovalgus
Frequent (30-79%)HP:0001884
Brachydactyly
Occasional (5-29%)HP:0001156
Thumb-in-palm pattern
Occasional (5-29%)HP:0001181
Quick Facts
- SNOMED CT
- 1229891004
- UMLS CUI
- C5680063
- Fully Specified Name
- 20q11.2 microdeletion 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.