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muscular dystrophy-dystroglycanopathy congenital with brain & eye anomalies A8 (MDDGA8)
Pathology:
- congenital muscular dystrophy
- dystroglycanopathy
- cobblestone lissencephaly & other brain anomalies
Genetics:
- autosomal recessive
- associated with mutations in POMGNT2
Clinical manifestations:
- eye malformations
- profound mental retardation
- death usually in the first years of life
- Walker-Warburg syndrome
- muscle-eye-brain disease
General
muscular dystrophy
Database Correlations
OMIM 614830
References
- OMIM :accession 614830
- UniProt :accession Q8NAT1