X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

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X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability spastic quadraparesis Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull hypertelorism deep-set eyes hypoplastic nares low-set ears) short stature truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium hypoplasia or atrophy of the optic chiasm prominent lateral ventricles diminished white matter) described on magnetic resonance imaging have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.

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 June 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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