NONO-Associated Syndrome: A Rare Case Report in a 2-Month-Old Belgian Male Infant

Abstract

We report the first Belgian case of NONO-associated syndrome, which was identified in a male infant presenting with hypotonia, macrocephaly, dysmorphic features, and severe non-compaction cardiomyopathy. A likely pathogenic NONO variant was identified through whole exome sequencing. While cardiac monitoring was guided by clinical findings, the genetic diagnosis allowed for personalised care and counselling. This case highlights the importance of combining phenotype recognition with molecular testing for early diagnosis. Continued case reporting is essential to improve our understanding of this rare X-linked disorder, and to guide future management and family planning strategies.