Issue 4/2025, Брой 4/2025, Articles

A Clinical Case of ZMYND11-Associated Syndromic Intellectual Disability

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M. Bogdanova1, T. Delchev1,2, T. Veleva1,2, D. Avdzhieva-Tzavella1,2

1Clinic for the treatment of children with genetic diseases, SBALDB “Prof. Ivan Mitev” – Sofia 2Department of Pediatrics, Faculty of Medicine, MU – Sofia

Abstract

Various pathogenic or likely pathogenic variants have been identified in the ZMYND11 gene, located on the short arm of chromosome 10, which encodes the synthesis of the ZMYND11 protein. As a result, reduced levels or reduced function of the ZMYND11 protein manifests in dysmorphic features, delayed neuropsychological development, behavioral disorders, hypotonia, and seizures.

We present a clinical case of a boy with related syndromic intellectual disability due to a pathogenic variant in the ZMYND11 gene.

Keywords: syndromic intellectual disability, behavioral disorders, pathogenic variant, ZMYND11

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Address for correspondence:

M. Bogdanova

Department of Clinical Genetics of the SBALDB “Prof. Ivan Mitev”, Sofia
e-mail: bogdanovamagdalena1@gmail.com