Overview
17q11 deletion 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.
Axillary freckling
Very frequent (80-99%)HP:0000997
Flat light-brown mark on skin
Very frequent (80-99%)HP:0000957
Freckling
Very frequent (80-99%)HP:0001480
Intellectual impairment
Very frequent (80-99%)HP:0100543
Multiple birthmarks
Very frequent (80-99%)HP:0007565
Neurofibroma
Very frequent (80-99%)HP:0001067
Poor attention span
Very frequent (80-99%)HP:0000736
Reduced friendship reciprocity
Very frequent (80-99%)HP:0012760
Abnormal central motor function
Frequent (30-79%)HP:0011442
Accelerated linear growth
Frequent (30-79%)HP:0000098
Beaking of vertebral bodies T12-L3
Frequent (30-79%)HP:0004562
Behavioral symptoms
Frequent (30-79%)HP:0000708
Bone cyst
Frequent (30-79%)HP:0012062
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Broad neck
Frequent (30-79%)HP:0000475
Central hypotonia
Frequent (30-79%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Decreased visual acuity, progressive
Frequent (30-79%)HP:0000529
Diffusely thickened skin
Frequent (30-79%)HP:0001072
Disorder of face
Frequent (30-79%)HP:0000271
Focal T2 hyperintense basal ganglia lesion
Frequent (30-79%)HP:0007183
Funny looking face
Frequent (30-79%)HP:0001999
Headache
Frequent (30-79%)HP:0002315
High blood pressure
Frequent (30-79%)HP:0000822
Increased size of skull
Frequent (30-79%)HP:0000256
Iris hamartomas
Frequent (30-79%)HP:0009737
Joint instability
Frequent (30-79%)HP:0001382
Language impairment
Frequent (30-79%)HP:0002463
Long foot
Frequent (30-79%)HP:0001833
Memory impairment
Frequent (30-79%)HP:0002354
Quick Facts
- SNOMED CT
- 880093002
- UMLS CUI
- C5401456
- Fully Specified Name
- 17q11 deletion 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.