08
Sep
2q24.3 Deletion
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Kashima et al. “Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series”. “Journal of Child Neurology” 2025, v. 0(0). Dravet syndrome is characterized by recurrent, prolonged seizures and neurodevelopmental concerns. Approximately 80% of patients diagnosed with Dravet syndrome (DS) have genetic variants... Read More
08
Sep
Jacobsen Syndrome
Garriz-Luis et al. “Clinical and neuropsychological characterization of Jacobsen syndrome (del11q)”. “Journal of Neurodevelopmental Disorders” 2026, v. 18:4. Jacobsen syndrome is a chromosomal disorder characterized by loss of the terminal end of chromosome 11q. Individuals with Jacobsen syndrome are characterized by intellectual disability, developmental delays, growth delay, behavioral issues,... Read More
08
Sep
10p11.2 Deletion
Okamoto et al. “A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion”. “American Journal of Pediatrics Part A” 2026, v. 0:1–8 DeSanto–Shinawi syndrome (WAC-related disorder) is a genetic disorder caused by pathogenic variants or deletions involving the WAC gene, located on... Read More
08
Sep
Phelan-McDermid Syndrome
Payne et al. “Behavioral Features in Phelan–McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals”. “Genes.” 2026, v. 17, 202 Phelan-McDermid syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, intellectual disability, autism spectrum disorder, and minor dysmorphic... Read More
08
Sep
9q34.11 Deletion
9q34.11 Deletion Individuals with deletions of the q34.11 segment on the long arm of chromosome 9 typically present with common clinical features including developmental and intellectual delays, vision or hearing concerns, and nonspecific facial differences. The main gene within this region that is responsible for the core phenotype is SET1.... Read More
