Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Abnormality of the pharynx
Very frequent (80-99%)HP:0000600
Autism
Very frequent (80-99%)HP:0000717
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Cognitive delay
Very frequent (80-99%)HP:0001263
Communication delay
Very frequent (80-99%)HP:0002474
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Difficulty finding words
Very frequent (80-99%)HP:0002381
Echologia
Very frequent (80-99%)HP:0010529
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Sleep apnea
Very frequent (80-99%)HP:0010535
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
High-grade hypermetropia
Frequent (30-79%)HP:0008499
Increased width of the forehead
Frequent (30-79%)HP:0000337
Inverted triangular face
Frequent (30-79%)HP:0000325
Oral pharyngeal dysphagia
Frequent (30-79%)HP:0200136
Scoliosis
Frequent (30-79%)HP:0002650
Speech dyspraxia
Frequent (30-79%)HP:0011098
Deafness
Occasional (5-29%)HP:0000365
Decreased body height
Occasional (5-29%)HP:0004322
Decreased size of cranium
Occasional (5-29%)HP:0000252
Hypothyroidism
Occasional (5-29%)HP:0000821
Related Conditions
Quick Facts
- SNOMED CT
- 734016004
- UMLS CUI
- C2931246
- Fully Specified Name
- 17p11.2 microduplication 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.