Overview
3q13 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.
Abnormal cranial suture/fontanelle morphology
Very frequent (80-99%)HP:0000235
Abnormal hands
Very frequent (80-99%)HP:0001155
Abnormality of the urinary system
Very frequent (80-99%)HP:0000079
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Cryptorchidism
Very frequent (80-99%)HP:0000028
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Large head
Very frequent (80-99%)HP:0000256
Low chest circumference
Very frequent (80-99%)HP:0000774
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Short neck
Very frequent (80-99%)HP:0000470
Stiff joint
Very frequent (80-99%)HP:0001387
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Quick Facts
- SNOMED CT
- 726705007
- UMLS CUI
- C2931338
- Fully Specified Name
- 3q13 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.