Clinical characteristics of RAC3-related syndrome include lobal developmental delay, severe to profound intellectual disability, abnormal tone and structural abnormality on brain MRI such as polymicrogyria, callosal abnormality, ventriculomegaly or middle interhemispheric variant of holoprosencephaly. Some individuals can also have seizures, laryngeal dystonia, respiratory failure, gastroesophageal reflux disease and feeding difficulties. Bilateral inguinal cryptorchidism, unilateral lambdoid craniosynostosis, severe scoliosis, hydrocephalus and genital hypoplasia have also been reported.
RAC3