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Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Disease definition
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
ORPHA:352687
Classification level: Group of disorders- Synonym(s):
- Lissencephaly type 2 with muscular and ocular involvement
- MDDGA
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 12588
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2012)
Additional information
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