9p13.3 Syndrome: A Rare and Unusual Genetic Cause of Tremor in a Young Indian Boy
Abstract
Tremor is a heterogeneous symptom and may be caused by genetic and non-genetic causes. Tremors in the paediatric age group associated with other features may be suggestive of a syndromic diagnosis. We describe the case of a 13-year-old boy who presented to the neurology department with progressive tremors. A reflex genetic evaluation revealed mild-moderate intellectual disability, subtle dysmorphic features and action-induced coarse tremors. A high-resolution chromosomal microarray confirmed the presence of 9p13.3 microdeletion syndrome. We delineate the core features of this syndrome and provide a comparison of all the reported features associated with this contiguous deletion syndrome.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Publication details
- Journal / source
- Apollo Medicine
- Publication date
- 16 January 2026
- Language
- EN