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Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Disease definition
A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.
ORPHA:370997
Classification level: Disorder- Synonym(s):
- MEB disease with bilateral multicystic leucodystrophy
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy
- ICD-10: G71.2
- OMIM: 616538
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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