distal monosomy 19p13.3
Findings
No curated finding names distal monosomy 19p13.3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).
Definition from the Mondo Disease Ontology (MONDO:0019893), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Long toeHPOHP:0010511
- Very frequent (80% to 99% of cases)
- Pelvic organ prolapseHPOHP:0031607
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Pulmonary valve atresiaHPOHP:0010882
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: distal monosomy 19p13.3
- Also called
- distal deletion 19ptelomeric deletion 19p