Professionals

Probands with ultra-rare mutations in the RALA gene present with speech and motor delays, intellectual disability, low weight, short stature, and facial dysmorphism. This RALA-associated syndrome (MIM: 619311) is likely a very rare neurodevelopmental disorder. Both males and females have been described with variants in this gene. Described variants are mostly de novo mutations that affect GTP-binding residues of the protein.