TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

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A rare genetic neurodevelopmental disorder characterized by global developmental delay congenital heart defects generalized hypertrichosis and dysmorphic facial features most commonly triangular face thick arched eyebrows widely spaced eyes posteriorly rotated low set ears depressed nasal bridge broad nasal root and tip and pointed chin.

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 July 2024

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TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome?

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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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