Radio-Tartaglia syndrome
Radio-Tartaglia syndrome
Definition
A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
Also known as SPEN-related neurodevelopmental disorder — per MONDO