CLCN4-related X-linked intellectual disability syndrome
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 April 2024
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CLCN4-related X-linked intellectual disability syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.