Mutations in the cell cycle-associated protein 1 (CAPRIN1) gene have been shown to present with language impairment, speech delay, intellectual disability, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), respiratory problems, limb and skeletal anomalies, developmental delay, feeding difficulties, seizures, ophthalmologic problems, cerebellar ataxia, dysmorphic features, and hearing loss. Here, CAPRIN1 is linked to aceruloplasminemia.