X-linked intellectual disability-macrocephaly-macroorchidism syndrome

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Synonyms: Johnson syndrome

An X-linked syndromic intellectual disability characterized by intellectual disability macrocephaly macroorchidism prominent eyebrows and jaws and abnormal ears. Males are predominantly affected some females show lower cognitive abilities.

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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X-linked intellectual disability-macrocephaly-macroorchidism 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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