Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of neuronal migration
Very frequent (80-99%)HP:0002269
Abnormality of the face
Very frequent (80-99%)HP:0000271
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Palpebronasal fold
Frequent (30-79%)HP:0000286
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Achalasia
Occasional (5-29%)HP:0002571
Decreased volume of lip vermillion
Occasional (5-29%)HP:0000233
Disproportionately large hands
Occasional (5-29%)HP:0001176
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Gait disturbance
Occasional (5-29%)HP:0001288
Narrow mouth
Occasional (5-29%)HP:0000160
Nasal hypoplasia
Occasional (5-29%)HP:0003196
Poor school performance
Occasional (5-29%)HP:0001249
Scoliosis
Occasional (5-29%)HP:0002650
Seizures
Occasional (5-29%)HP:0001250
Syncope
Occasional (5-29%)HP:0001279
Unbalanced face
Occasional (5-29%)HP:0000324
Related Conditions
Quick Facts
- SNOMED CT
- 698849002
- UMLS CUI
- C0795868
- Fully Specified Name
- Tetrasomy 18p (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.