X-linked intellectual disability-macrocephaly-macroorchidism syndrome

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X-linked intellectual disability-macrocephaly-macroorchidism syndrome

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 September 2023.

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X-linked intellectual disability-macrocephaly-macroorchidism syndrome?

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