Overview
8q12 microduplication syndrome 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.
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Duane anomaly
Very frequent (80-99%)HP:0009921
Sensorineural deafness
Very frequent (80-99%)HP:0000407
VSD
Very frequent (80-99%)HP:0001629
Wide palpebral fissure
Very frequent (80-99%)HP:0000637
Abnormality of the cranial nerves
Frequent (30-79%)HP:0001291
Atria septal defect
Frequent (30-79%)HP:0001631
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Increased length of philtrum
Frequent (30-79%)HP:0000343
Narrow mouth
Frequent (30-79%)HP:0000160
Palpebronasal fold
Frequent (30-79%)HP:0000286
Protruding lower lip
Frequent (30-79%)HP:0000232
Short and broad skull
Frequent (30-79%)HP:0000248
Small feet
Frequent (30-79%)HP:0001773
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
VUR
Frequent (30-79%)HP:0000076
Related Conditions
Quick Facts
- SNOMED CT
- 719684000
- UMLS CUI
- C4304504
- Fully Specified Name
- 8q12 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.