Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare genetic syndromic intellectual disabilty disorder characterized by severe intellectual disability progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck resulting in individuals presenting a specific fixed position.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome?
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