autosomal recessive limb-girdle muscular dystrophy type R18
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0018243
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
is_a
LGMD2S
exact
TRAPPC11 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11
exact
autosomal recessive limb-girdle muscular dystrophy type 2S
exact
limb-girdle muscular dystrophy type 2S
related
muscular dystrophy, limb-girdle, autosomal recessive 18
exact
muscular dystrophy, limb-girdle, type 2S
exact