14q24.1q24.3 microdeletion syndrome

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Synonyms: Del(14)(q24.1q24.3) | Monosomy 14q24.1q24.3

14q24.1q24.3 microdeletion syndrome is a rare genetic syndromic intellectual disability characterized by mild intellectual disability delayed speech development congenital heart defects brachydactyly and dysmorphic facial features.

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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14q24.1q24.3 microdeletion syndrome?

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Advocacy Organizations

Amurri Divine Mercy Foundation Pty Ltd

The ADMF is inspired by the mission to transform healthcare inequalities, improving access to clean water, clean renewable energy, sanitation and waste management anchored on environmental protection, conversation and sustainability strategies to mitigate health risks and control the outbreak of infectious diseases.

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

For a list of clinical trials in this disease area, please click here.