Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Multiple exostoses
Always present (100%)HP:0002762
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Convex bridge of nose
Very frequent (80-99%)HP:0000426
Decreased mineralization of skull
Very frequent (80-99%)HP:0004331
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Nasal tip, depressed
Very frequent (80-99%)HP:0000437
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Single flexion crease
Very frequent (80-99%)HP:0000954
Small nasal alae
Very frequent (80-99%)HP:0000430
Wide skull shape
Very frequent (80-99%)HP:0000248
Brachydactyly
Frequent (30-79%)HP:0001156
Central hypotonia
Frequent (30-79%)HP:0001252
Craniofacial dysostosis
Frequent (30-79%)HP:0004439
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Extra bones within cranial sutures
Frequent (30-79%)HP:0002645
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Persistent foramina of the parietal bones
Frequent (30-79%)HP:0002697
Seizures
Frequent (30-79%)HP:0001250
Short penis
Frequent (30-79%)HP:0000054
Squint
Frequent (30-79%)HP:0000486
Cutaneous syndactyly between fingers 2 and 5
Occasional (5-29%)HP:0005650
Delayed puberty
Occasional (5-29%)HP:0000823
High blood pressure
Occasional (5-29%)HP:0000822
Hypothyroidism
Occasional (5-29%)HP:0000821
Low intelligence
Occasional (5-29%)HP:0001249
Quick Facts
- SNOMED CT
- 702346005
- UMLS CUI
- C1832588
- Fully Specified Name
- Chromosome 11p11.2 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.