Seizures-intellectual disability due to hydroxylysinuria syndrome
A rare inborn error of metabolism characterized by infantile onset of global developmental delay severe intellectual disability seizures and movement disorder (including tremor hyperkinesia and myoclonus) associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.
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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Seizures-intellectual disability due to hydroxylysinuria syndrome?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.