Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed language development
Very frequent (80-99%)HP:0000750
Epilepsy
Very frequent (80-99%)HP:0001250
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Repetitive behaviour Stereotypic behaviour
Very frequent (80-99%)HP:0000733
Ataxia
Frequent (30-79%)HP:0001251
Autoagression
Frequent (30-79%)HP:0100716
Central hypotonia
Frequent (30-79%)HP:0001252
Coarse face
Frequent (30-79%)HP:0000280
Constipation
Frequent (30-79%)HP:0002019
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Generalized hirsutism
Frequent (30-79%)HP:0002230
Growth deficiency
Frequent (30-79%)HP:0001510
hyperkinetic disorder
Frequent (30-79%)HP:0000752
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Increased appetite
Frequent (30-79%)HP:0002591
Increased width of the forehead
Frequent (30-79%)HP:0000337
Paroxysmal laughter
Frequent (30-79%)HP:0000749
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Protruding lower lip
Frequent (30-79%)HP:0000232
Short palm
Frequent (30-79%)HP:0004279
Slack jawed appearance
Frequent (30-79%)HP:0000194
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Tented mouth
Frequent (30-79%)HP:0010804
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Trouble sleeping
Frequent (30-79%)HP:0002360
Unibrow
Frequent (30-79%)HP:0000664
Wide cranium shape
Frequent (30-79%)HP:0000248
Cryptorchidism
Occasional (5-29%)HP:0000028
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Quick Facts
- SNOMED CT
- 719657001
- UMLS CUI
- C4304532
- Fully Specified Name
- 2q23.1 microdeletion 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.