20p13 microdeletion syndrome

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Synonyms: 20p subtelomeric deletion syndrome | Del(20)(p13) | Monosomy 20p13

20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay mild to moderate intellectual disability epilepsy and unspecific dysmorphic signs. High palate delayed permanent tooth eruption hypoplastic fingernails clinodactyly and short fingers have 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 http://www.orphadata.org. Data version October 2024

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20p13 microdeletion 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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