Uncommon
Chopra–Amiel–Gordon syndrome
Rare neurodevelopmental disorder
Chopra–Amiel–Gordon syndrome
Chopra–Amiel–Gordon syndrome (CAGS), also called ANKRD17‑related neurodevelopmental syndrome, is an ultra-rare genetic disorder characterized by developmental delay and variable intellectual disability, particularly affecting speech. It is caused by autosomal dominant loss‑of‑function variants of the ANKRD17 gene on chromosome 4, which encodes ankyrin repeat domain‑containing protein 17. The syndrome was first delineated in 2021 by researchers Maya Chopra, Jeanne Amiel and Christopher T. Gordon, after whom it is named.
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