Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

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Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

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: // Data version September 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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