13q12.3 microdeletion syndrome

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Synonyms: Del(13)(q12.3) | Monosomy 13q12.3

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability speech delay postnatal microcephaly eczema or atopic dermatitis characteristic facial features (malar flattening prominent nose underdeveloped alae nasi smooth philtrum and thin vermillion of the upper lip) and reduced sensitivity to pain.

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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13q12.3 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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