ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
MONDO:0008130Mondo
Findings
No curated finding names ophthalmoplegia-intellectual disability-lingua scrotalis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Furrowed tongueHPOHP:0000221
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Oculomotor nerve palsyHPOHP:0012246
- Very frequent (80% to 99% of cases)
- OphthalmoparesisHPOHP:0000597
- Very frequent (80% to 99% of cases)
- OphthalmoplegiaHPOHP:0000602
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Occasional (5% to 29% of cases)
Show the remaining 1
- HemiplegiaHPOHP:0002301
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Also called
- Levic-Stefanovic-Nikolic syndrome