CLCN4-related X-linked intellectual disability syndrome

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Synonyms: Raynaud-Claes syndrome

A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree behavioral anomalies (including autism mood disorders obsessive-compulsive behavior and hetero- and auto-aggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.

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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CLCN4-related X-linked intellectual disability syndrome?

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Advocacy Organizations

Cure CLCN4

Cure CLCN4 is a registered charity aimed at providing support, raising awareness and funding medical and scientific research for effective treatments for CLCN4-related neurodevelopment condition, a rare genetic condition that causes intellectual disability and other problems such as epilepsy, behavioural disorders, movement disorders and microcephaly.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.