Article

Raynaud–Claes Syndrome as a Rett-Like Condition: Review of the Literature and Presentation of Two Additional Cases

2026-04-22

Abstract excerpt

Pathogenic variants in the CLCN4 gene are associated with a rare X-linked neurodevelopmental disorder, Raynaud–Claes syndrome, characterized by intellectual disability, epilepsy, language impairment, motor deficits, stereotypies, and structural brain abnormalities. Although heterozygous females are often considered to be only mildly affected, severe phenotypes have also been reported, and the clinical presentation...

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Literature Corpus work: 9b5c05e2-db68-5f62-b722-47a3a16f0a6b
DOI: 10.20944/preprints202604.1554.v1

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