Chopra-Amiel-Gordon syndrome, abbreviated CAGS and also called ANKRD17-related neurodevelopmental syndrome, is an ultra-rare genetic disorder. It is characterized by developmental delay and variable intellectual disability, with speech particularly affected. The cause is autosomal dominant loss-of-function variants of the ANKRD17 gene on chromosome 4, which encodes the protein ankyrin repeat domain-containing protein 17. The syndrome was first delineated in 2021 by the researchers Maya Chopra, Jeanne Amiel and Christopher T. Gordon, after whom it is named.
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Classification
Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. Chopra-Amiel-Gordon syndrome (Wikipedia)
Lead paragraph
first delineated in 2021 by researchers Maya Chopra, Jeanne Amiel and Christopher T. Gordon
Lead paragraph [causative-agent-category]
ultra-rare genetic disorder characterized by developmental delay
Lead paragraph [body-system]
characterized by developmental delay and variable intellectual disability
View the Source2. Chopra-Amiel-Gordon syndrome (Wikipedia)
Lead: disease categoryQuote, Lead: disease category
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.
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