STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome?
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