CDKL5 deficiency disorder

CDKL5 deficiency disorder
SymptomsRefractory epilepsy, Hypotonia, developmental, intellectual, and motor disabilities with little or no speech, and cortical visual impairment
CausesPathogenic variants in the gene CDKL5
Diagnostic methodGenetic testing
TreatmentAntiseizure medications (ASMs)
Frequency1 in 42,000 live births

CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.