Overview
Distal 15q deletion 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.
Low birth weight
Very frequent (80-99%)HP:0001518
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Abnormality of the aortic arch
Frequent (30-79%)HP:0012303
Aortic coarctation
Frequent (30-79%)HP:0001680
ASD
Frequent (30-79%)HP:0000729
Bicuspid aortic valve
Frequent (30-79%)HP:0001647
Blepharophimosis
Frequent (30-79%)HP:0000581
Broad, upturned nose
Frequent (30-79%)HP:0000455
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Cleft of palate
Frequent (30-79%)HP:0000175
Cryptorchidism
Frequent (30-79%)HP:0000028
Cutaneous 2,3 toe syndactyly
Frequent (30-79%)HP:0005709
Decreased body height
Frequent (30-79%)HP:0004322
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Decreased serum insulin-like growth factor 1
Frequent (30-79%)HP:0030353
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Delayed language development
Frequent (30-79%)HP:0000750
Dental anomalies
Frequent (30-79%)HP:0000164
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Disproportionately small hands
Frequent (30-79%)HP:0200055
Distal phalangeal hypoplasia
Frequent (30-79%)HP:0009882
Epilepsy
Frequent (30-79%)HP:0001250
Fetal foot inversion
Frequent (30-79%)HP:0001762
Finger clinodactyly
Frequent (30-79%)HP:0040019
Flat back of skull
Frequent (30-79%)HP:0005469
Generalized joint laxity
Frequent (30-79%)HP:0002761
Genu valga
Frequent (30-79%)HP:0002857
Quick Facts
- SNOMED CT
- 766050000
- UMLS CUI
- C4707662
- Fully Specified Name
- Distal monosomy 15q 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.