Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

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A rare syndromic intellectual disability characterized by intellectual disability of various severity hypotonia feeding difficulties dysmorphic features autism and behavioral issues. Growth retardation congenital heart anomalies gastrointestinal and genitourinary defects have been rarely associated.

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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Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?

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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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