Cataract-deafness-hypogonadism syndrome

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Synonyms: Cataract-hearing loss-hypogonadism syndrome | Schaap-Taylor-Baraitser syndrome

Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome described in only three brothers to date that is characterized by the association of congenital cataract sensorineural deafness hypogonadism mild intellectual deficit hypertrichosis and short stature. There have been no further descriptions in the literature since 1995.

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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