Glass syndrome

Definition:

Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.

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