muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0018939
muscle-eye-brain disease
is_a
MONDO:0700067
myopathy caused by variation in FKTN
is_a
FCMD
exact
Fukuyama Type Congenital Muscular Dystrophy
exact
Fukuyama congenital muscular dystrophy
exact
MDDGA4
exact
Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related
exact
muscle-eye-brain-FKTN related
exact
muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
exact