16q24.3 microdeletion syndrome
MONDO:0016838Mondo
Findings
No curated finding names 16q24.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Definition from the Mondo Disease Ontology (MONDO:0016838), read 2026-09-29. CC BY 4.0.
Features
47 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.
- AutismHPOHP:0000717
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- ColpocephalyHPOHP:0030048
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Optic nerve hypoplasiaHPOHP:0000609
- Frequent (30% to 79% of cases)
- Periventricular heterotopiaHPOHP:0007165
- Frequent (30% to 79% of cases)
Show the remaining 35
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Smooth philtrumHPOHP:0000319
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- Abnormal hair patternHPOHP:0010720
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 16q24.3 microdeletion syndrome
- Also called
- Del(16)(q24.3)monosomy 16q24.3