Overview
Distal trisomy 7q11.23 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.
Aortic aneurysm
Very frequent (80-99%)HP:0004942
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Cryptorchidism
Frequent (30-79%)HP:0000028
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Muscular hypotonia
Frequent (30-79%)HP:0001252
Benign neoplasm of the CNS
Occasional (5-29%)HP:0100835
Chiari malformation
Occasional (5-29%)HP:0002308
Frontoethmoidal encephalocele
Occasional (5-29%)HP:0007330
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
PDA
Occasional (5-29%)HP:0001643
Related Conditions
Quick Facts
- SNOMED CT
- 773325004
- UMLS CUI
- C4750782
- Fully Specified Name
- Distal 7q11.23 microduplication syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.