Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Synonyms: IDMDC
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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