| A form of limb-girdle muscular dystrophy with characteristics of childhood-onset 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. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35. |
