Individuals with variants in RFX7usually exhibit global developmental delay in childhood which means they were delayed in speech and language (talking), gross motor (walking) and fine motor skills (use of hands). As older children or young adults, individuals often have some level of intellectual disability. This means one will have difficulties with learning, planning, reasoning, judgment and problem solving, making it difficult to obtain employment or take care of daily living skills without some degree of support or guidance from others.
Many individuals will have features of autism (difficulties with relating to others socially and communicating socially along with repetitive behaviour or hypersensitivity to sensory information such as sound). Almost all cases have behavioral difficulties which might include becoming overly stimulated too easily in loud environments or with transitions/changes, high pain threshold, anxiety, emotional dysregulation (one’s mood changes quickly and unexpectedly) and aggression. A smaller number of patients have been reported to have seizures.
RFX7