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muscular dystrophy-dystroglycanopathy type A12 (MDDGA12)
Genetics:
- autosomal recessive
- associated with defects in POMK
Clinical manifestations:
- brain & eye anomalies
- congenital muscular dystrophy
- cobblestone lissencephaly & other brain anomalies
- 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 615249
References
OMIM :accession 615249