Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

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Synonyms: Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome | ELOVL4-related neuro ichthyosis

A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay intellectual disability infantile-onset seizures and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.

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 July 2024

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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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