Chromosome 15q Deletion
Presentation
Entire Body System
- Developmental Delay
Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet. 2013;50:65–73. [ncbi.nlm.nih.gov]
- Epilepsy
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008;71:997–9. [ncbi.nlm.nih.gov]
- Short Stature
English Background and objective Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. [dialnet.unirioja.es]
Cardiovascular
- Heart Disease
disease: a series of 52 patients. [ncbi.nlm.nih.gov]
Neurologic
- Seizure
Risk of sudden unexpected death in epilepsy in patients given adjunctive antiepileptic treatment for refractory seizures: a meta-analysis of placebo-controlled randomised trials. Lancet Neurol. 2011;10:961–8. [ncbi.nlm.nih.gov]