Overview
Distal trisomy 22q11.2 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal antihelix morphology
Occasional (5-29%)HP:0009738
Abnormality of movement
Occasional (5-29%)HP:0100022
Anal atresia
Occasional (5-29%)HP:0002023
Branchial cleft fistula
Occasional (5-29%)HP:0009795
Camptodactyly of feet
Occasional (5-29%)HP:0001836
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Cognitive delay
Occasional (5-29%)HP:0001263
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Decreased size of cranium
Occasional (5-29%)HP:0000252
Decreased width of the skull
Occasional (5-29%)HP:0004422
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Dysphonia
Occasional (5-29%)HP:0001618
Enlarged mandible
Occasional (5-29%)HP:0000303
Enophthalmos
Occasional (5-29%)HP:0000490
Epilepsy
Occasional (5-29%)HP:0001250
Flat philtrum
Occasional (5-29%)HP:0000319
Frontal protuberance
Occasional (5-29%)HP:0002007
Helix abnormal
Occasional (5-29%)HP:0011039
High arched palate
Occasional (5-29%)HP:0000218
Hypoplastic toenails
Occasional (5-29%)HP:0001800
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of philtrum
Occasional (5-29%)HP:0000343
Increased nasal width
Occasional (5-29%)HP:0000445
Increased size of skull
Occasional (5-29%)HP:0000256
Increased width of the forehead
Occasional (5-29%)HP:0000337
Inverted triangular face
Occasional (5-29%)HP:0000325
Language impairment
Occasional (5-29%)HP:0002463
Related Conditions
Quick Facts
- SNOMED CT
- 764524005
- UMLS CUI
- C4706942
- Fully Specified Name
- Distal 22q11.2 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.