Atkin-Flaitz syndrome

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Synonyms: X-linked intellectual disability, Atkin type

A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit macrocephaly short stature and facial dysmorphism (such as prominent forehead prominent supraorbital ridges hypertelorism downslanting palpebral fissures broad nasal tip anteverted nostrils thick lower lip and localized microdontia). Additional reported features include seizures post-pubertal macroorchidism obesity and short broad hands with tapered fingers.

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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Atkin-Flaitz 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

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