Gabriele-de Vries syndrome

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Gabriele-de Vries syndrome

Synonyms: YY1 haploinsufficiency syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry broad forehead posteriorly rotated ears thick lower lip micrognathia or cleft palate). A variety of congenital malformations have been reported in addition including ocular renal cardiac and joint anomalies among others. Some patients show behavioral alterations (autism hyperactivity or anxiety).

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: // Data version September 2023.

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