4q25 proximal deletion syndrome

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Synonyms: Proximal del(4)(q25) | Proximal monosomy 4q25

A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties developmental and delay/ intellectual disability and minor dysmorphic features including subtle facial asymmetry (most prominent in the mandible) mild hypotelorism long nasal bridge small low-set ears narrow mouth and mild hand deformities such as bilateral short 5th metacarpals and short hands.

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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4q25 proximal deletion 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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