chromosome 22q13 duplication syndrome

A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Upslanted palpebral fissure
• Status epilepticus
• Anteverted nares
• Global developmental delay
• Polyphagia
• Impulsivity
• Narrow nasal ridge
• Emotional lability
• Short attention span