muscle-eye-brain disease with bilateral multicystic leucodystrophy
Findings
No curated finding names muscle-eye-brain disease with bilateral multicystic leucodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.
Definition from the Mondo Disease Ontology (MONDO:0018280), read 2026-09-29. CC BY 4.0.
Features
23 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 brainstem morphologyHPOHP:0002363
- Frequent (30% to 79% of cases)
- Abnormal pons morphologyHPOHP:0007361
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- AgyriaHPOHP:0031882
- Frequent (30% to 79% of cases)
- Cerebellar cystHPOHP:0002350
- Frequent (30% to 79% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Frequent (30% to 79% of cases)
- Delayed ability to sit
Show the remaining 11
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- LeukodystrophyHPOHP:0002415
- Frequent (30% to 79% of cases)
- PolymicrogyriaHPOHP:0002126
- Frequent (30% to 79% of cases)
- Poor head controlHPOHP:0002421
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Also called
- MEB disease with bilateral multicystic leucodystrophy