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

More general terms

• muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/614830