Orphanet: Muscle eye brain disease with bilateral multicystic leucodystrophy

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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: G71.0
OMIM: 616538
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997

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