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

More general terms

• muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/615249