Symptomatic form of Coffin-Lowry syndrome in female carriers

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A rare X-linked syndromic intellectual disability which in symptomatic female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead hypertelorism down-slanting palpebral fissures epicanthic folds thick lips with everted lower vermilion thick nasal alae and septum) short hands with tapering fingers short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate but intellect can also be normal. A high rate of psychiatric disorders has also 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 Data version July 2024

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Symptomatic form of Coffin-Lowry syndrome in female carriers?

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Advocacy Organizations

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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