SATB2-associated syndrome

A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, b

A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Hypotonia
• Anterior tibial bowing
• Restlessness
• Dental crowding
• Posteriorly rotated ears
• Facial hypotonia
• Downslanted palpebral fissures
• Cleft palate
• Poor suck

Also known as: 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; chromosome 2q32-q33 deletion syndrome; monosomy 2q32