STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge deep-set eyes and wide mouth) often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures hypotonia autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).

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 May 2024

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STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome?

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