intellectual disability-seizures-macrocephaly-obesity syndrome
Findings
No curated finding names intellectual disability-seizures-macrocephaly-obesity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Definition from the Mondo Disease Ontology (MONDO:0018248), read 2026-09-29. CC BY 4.0.
Features
50 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 dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormality of the pineal glandHPOHP:0012680
- Very frequent (80% to 99% of cases)
- AmblyopiaHPOHP:0000646
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- Very frequent (80% to 99% of cases)
Show the remaining 38
- ExotropiaHPOHP:0000577
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Heat intoleranceHPOHP:0002046
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: intellectual disability-seizures-macrocephaly-obesity syndrome
- Also called
- Der(8)t(8;12)