Clinical significance
In 2022, loss-of-function mutations of the CAPRIN1 gene were shown to result in an autosomal-dominant disorder. Patients having the newly-discovered disorder suffer from language impairment, speech delay, intellectual disability, ADHD and autism spectrum disorder. [12] Somatically, they have respiratory problems, limb/skeletal anomalies, developmental delay, feeding difficulties, seizures and ophthalmologic problems.
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