Lethal brain and heart developmental defects

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A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation generalized edema craniofacial dysmorphism (such as microcephaly brachycephaly frontal bossing hypertelorism short palpebral fissures or absent nasal bone) cerebellar hypoplasia sex reversal in male fetuses congenital heart defects (including septal and valve defects and cardiomegaly) and late fetal loss.

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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Lethal brain and heart developmental defects?

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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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