muscle-eye-brain disease
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.
MONDO:0015327
developmental anomaly of metabolic origin
excluded_subClassOf
MONDO:0016185
qualitative or quantitative defects of protein O-mannosyltransferase 2
excluded_subClassOf
MONDO:0018276
muscular dystrophy-dystroglycanopathy
excluded_subClassOf
MONDO:0018869
cobblestone lissencephaly
excluded_subClassOf
MONDO:0700066
myopathy caused by variation in FKRP
excluded_subClassOf
MONDO:0700068
myopathy caused by variation in POMGNT1
excluded_subClassOf
MONDO:0019950
congenital muscular dystrophy
is_a
MEB
related
MEB syndrome
exact
Santavuori congenital muscular dystrophy
exact
muscle eye brain disease
related
muscle-eye-brain syndrome
exact
muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
narrow
SPCC1906.01 SPBC16C6.09 SPAC22A12.07c SPAPB1E7.09