19p13.12 microdeletion syndrome
MONDO:0016765Mondo
Findings
No curated finding names 19p13.12 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0016765), read 2026-09-29. CC BY 4.0.
Features
55 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- HypodontiaHPOHP:0000668
- Frequent (30% to 79% of cases)
Show the remaining 43
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Narrow nasal bridgeHPOHP:0000446
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 19p13.12 microdeletion syndrome
- Also called
- Del(19)(p13.12)monosomy 19p13.12