megalocornea-intellectual disability syndrome
Findings
No curated finding names megalocornea-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Definition from the Mondo Disease Ontology (MONDO:0009577), read 2026-09-29. CC BY 4.0.
Features
45 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.
- MegalocorneaHPOHP:0000485
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
Show the remaining 33
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the irisHPOHP:0007676
- Frequent (30% to 79% of cases)
- IridodonesisHPOHP:0100693
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: megalocornea-intellectual disability syndrome
- Also called
- Megalocornea Intellectual Disability SyndromeMMR syndromeNeuhäuser syndromeNeuhC$user syndrome