TRAPPC11-related limb-girdle muscular dystrophy R18

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TRAPPC11-related limb-girdle muscular dystrophy R18

Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2S | LGMD type 2S | LGMD2S | Limb-girdle muscular dystrophy type 2S | TRAPPC11-related LGMD 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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TRAPPC11-related limb-girdle muscular dystrophy R18?

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