microtriplication 11q24.1
Findings
No curated finding names microtriplication 11q24.1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
Definition from the Mondo Disease Ontology (MONDO:0017335), read 2026-09-29. CC BY 4.0.
Features
38 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Attached earlobeHPOHP:0009907
- Very frequent (80% to 99% of cases)
- Broad chinHPOHP:0011822
- Very frequent (80% to 99% of cases)
- BruxismHPOHP:0003763
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Delayed speech and language development
Show the remaining 26
- Irregularly spaced teethHPOHP:0006316
- Very frequent (80% to 99% of cases)
- Joint dislocationHPOHP:0001373
- Very frequent (80% to 99% of cases)
- KeratoconusHPOHP:0000563
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Metatarsus adductusHPOHP:0001840
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: microtriplication 11q24.1
- Also called
- tetrasomy 11q24.1