Agenesis of corpus callosum, cardiac, ocular, and genital syndrome

Definition:

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding.

References:

[1]. Andrea Accogli, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 Oct 3;105(4):854-868. [Content Brief]

[2]. Linda M Reis, et al. Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clin Genet. 2020 Mar;97(3):502-508. [Content Brief]

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