Overview
9q31.1q31.3 microdeletion 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.
Aortic valve regurgitation
Frequent (30-79%)HP:0001659
Bicuspid aortic valve
Frequent (30-79%)HP:0001647
Broad, upturned nose
Frequent (30-79%)HP:0000455
Cervical kyphosis
Frequent (30-79%)HP:0002947
Decreased body height
Frequent (30-79%)HP:0004322
Disproportionately small hands
Frequent (30-79%)HP:0200055
Distortion of face
Frequent (30-79%)HP:0001999
Elevated total cholesterol
Frequent (30-79%)HP:0003124
Flat facial shape
Frequent (30-79%)HP:0012368
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Mental retardation, mild
Frequent (30-79%)HP:0001256
NIDDM
Frequent (30-79%)HP:0005978
Overweight
Frequent (30-79%)HP:0025502
Psychomotor retardation, mild
Frequent (30-79%)HP:0011342
Renovascular hypertension
Frequent (30-79%)HP:0100817
Short clavicles
Frequent (30-79%)HP:0000894
Short neck
Frequent (30-79%)HP:0000470
Stretched and thinned heart muscle
Frequent (30-79%)HP:0001644
Tapering fingers
Frequent (30-79%)HP:0001182
Thick hair
Frequent (30-79%)HP:0100874
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Wide chin
Frequent (30-79%)HP:0011822
Quick Facts
- SNOMED CT
- 773493002
- UMLS CUI
- C4750910
- Fully Specified Name
- 9q31.1q31.3 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.