XY type gonadal dysgenesis-associated anomalies syndrome

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XY type gonadal dysgenesis-associated anomalies syndrome

A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature cardiac renal musculoskeletal and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls) and dysmorphic facial features (such as preauricular pits short columella and small nares). There have been no further descriptions in the literature since 1980.

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 March 2024

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XY type gonadal dysgenesis-associated anomalies syndrome?

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