Overview
13q12.3 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.
Camptodactyly
Frequent (30-79%)HP:0012385
Cellulitis of upper eyelid
Frequent (30-79%)HP:0012724
Columella, low insertion
Frequent (30-79%)HP:0010763
Constipation
Frequent (30-79%)HP:0002019
Decreased body height
Frequent (30-79%)HP:0004322
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
hyperkinetic disorder
Frequent (30-79%)HP:0000752
Hyperopia
Frequent (30-79%)HP:0000540
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Impaired pain sensation
Frequent (30-79%)HP:0007328
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Moderate mental retardation
Frequent (30-79%)HP:0002342
Neurodermatitis
Frequent (30-79%)HP:0001047
Partial anodontia
Frequent (30-79%)HP:0000677
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Self-mutilation
Frequent (30-79%)HP:0000742
Small nasal alae
Frequent (30-79%)HP:0000430
Speech and language difficulties
Frequent (30-79%)HP:0000750
Undergrowth
Frequent (30-79%)HP:0001508
Vomiting
Frequent (30-79%)HP:0002013
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Allergy
Occasional (5-29%)HP:0012393
Chronic middle ear infection
Occasional (5-29%)HP:0000389
Cryptorchidism
Occasional (5-29%)HP:0000028
Deafness
Occasional (5-29%)HP:0000365
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Hemihypotrophy of lower limb
Occasional (5-29%)HP:0200053
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Obesity
Occasional (5-29%)HP:0001513
Obstructive sleep apnea
Occasional (5-29%)HP:0002870
Quick Facts
- SNOMED CT
- 773547003
- UMLS CUI
- C4750951
- Fully Specified Name
- 13q12.3 microdeletion 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.