Families

Probands with ultra-rare mutations in the RALA gene present with developmental delays like delays in crawling, walking, or talking. This RALA-associated syndrome, also known as “Hiatt-Neu-Cooper Neurodevelopmental Syndrome” (https://omim.org/entry/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 or “new” mutations that are not inherited from a parent.