developmental anomaly of metabolic origin qualitative or quantitative defects of protein O-mannosyltransferase 2 muscular dystrophy-dystroglycanopathy cobblestone lissencephaly muscle-eye-brain disease https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease https://www.malacards.org/card/muscle_eye_brain_disease MEB syndrome muscle eye brain disease SCTID:277950001 Santavuori congenital muscular dystrophy UMLS:C0457133 MONDO:0018939 A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. GARD:0000156 ICD9:742.4 muscle-eye-brain syndrome MEDGEN:105341 muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 Orphanet:588 MEB congenital muscular dystrophy myopathy caused by variation in FKRP myopathy caused by variation in POMGNT1