Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Behavioral symptoms
Very frequent (80-99%)HP:0000708
Bruxism
Very frequent (80-99%)HP:0003763
Early bone maturation
Very frequent (80-99%)HP:0005616
Hypoplastic toenails
Very frequent (80-99%)HP:0001800
Hypotonia, in neonatal onset
Very frequent (80-99%)HP:0001319
Impaired pain sensation
Very frequent (80-99%)HP:0007328
Macrotia
Very frequent (80-99%)HP:0000400
Speech delay
Very frequent (80-99%)HP:0000750
Autism
Frequent (30-79%)HP:0000717
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Decreased sweating
Frequent (30-79%)HP:0000966
Deep set eye
Frequent (30-79%)HP:0000490
Disproportionately large hands
Frequent (30-79%)HP:0001176
Dolichocephaly
Frequent (30-79%)HP:0000268
Episodic vomiting
Frequent (30-79%)HP:0002572
Eyelid ptosis
Frequent (30-79%)HP:0000508
Feeding difficulties
Frequent (30-79%)HP:0011968
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
High arched palate
Frequent (30-79%)HP:0000218
Hyperactive behaviour
Frequent (30-79%)HP:0000752
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Immune deficiency
Frequent (30-79%)HP:0002721
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Intolerance to heat and fevers
Frequent (30-79%)HP:0002046
Mouthing
Frequent (30-79%)HP:0000710
partial or complete syndactyly 2nd-3rd toes
Frequent (30-79%)HP:0004691
Poor eye contact
Frequent (30-79%)HP:0000817
Potato nose
Frequent (30-79%)HP:0000414
Quick Facts
- SNOMED CT
- 699310000
- UMLS CUI
- C1853490
- Fully Specified Name
- 22q13.3 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.