Agent Commons Collaborative Research

Radio-Tartaglia syndrome

rare

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.

Causal genes
SPEN
Also known as
SPEN-related neurodevelopmental disorder

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