Overview
Distal monosomy 19p13.3 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.
Arachnodactyly
Very frequent (80-99%)HP:0001166
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased circulating immunoglobulin concentration
Very frequent (80-99%)HP:0004313
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Dull intelligence
Very frequent (80-99%)HP:0001249
Epilepsy
Very frequent (80-99%)HP:0001250
Hair loss
Very frequent (80-99%)HP:0001596
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Hypotrophic maxilla
Very frequent (80-99%)HP:0000327
Increased length of toes
Very frequent (80-99%)HP:0010511
Keloids
Very frequent (80-99%)HP:0010562
Ligamentous laxity
Very frequent (80-99%)HP:0001382
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Pulmonary valve atresia
Very frequent (80-99%)HP:0010882
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Thick eyebrow
Very frequent (80-99%)HP:0000574
Tricuspid valve prolapse
Very frequent (80-99%)HP:0001704
Umbilical hernia
Very frequent (80-99%)HP:0001537
Vaginal hernia
Very frequent (80-99%)HP:0100672
Vertical enlargement of face
Very frequent (80-99%)HP:0000276
VSD
Very frequent (80-99%)HP:0001629
Related Conditions
Quick Facts
- SNOMED CT
- 770411000
- UMLS CUI
- C4749277
- Fully Specified Name
- Distal monosomy 19p13.3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.