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 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: -

Detailed information

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Article for general public
Czech (2012, pdf) - Cure CMD
Deutsch (2012, pdf) - Cure CMD
English (2012, pdf) - Cure CMD
Español (2012, pdf) - Cure CMD
Français (2012, pdf) - Cure CMD
Japanese (2012, pdf) - Cure CMD
Latvian (2012, pdf) - Cure CMD
Norsk (2012, pdf) - Cure CMD
Português (2012, pdf) - Cure CMD
Serbian (2012, pdf) - Cure CMD
Türkçe (2012, pdf) - Cure CMD

: produced/endorsed by ERN(s)
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Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997

A summary on this disease is available in Français (2023) Deutsch (2019) Español (2019) Italiano (2019) Nederlands (2019)

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