Article

Adult Diagnosis of ATN1-Related Neurodevelopmental Disorder: A Case Report of a Mild Phenotype with In-Frame Tandem Duplication in the HX Motif

2025-08-14

Abstract excerpt

<title>Abstract</title> <p> ATN1-related neurodevelopmental disorder (ATN1-NDD) is a rare genetic condition typically diagnosed in infancy, characterized by profound developmental delay and hypotonia due to heterozygous pathogenic variants in the highly conserved HX motif of the <italic>ATN1</italic> gene. We present a unique case of a 29-year-old male with mild intellectual disability, autism spectrum disorde...

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Literature Corpus work: cb9658a6-7456-5f10-b91f-4d2e1507d8be
DOI: 10.21203/rs.3.rs-7274724/v1

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