CDKL5 deficiency disorder
CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5.
| CDKL5 deficiency disorder | |
|---|---|
| Symptoms | Refractory epilepsy, Hypotonia, developmental, intellectual, and motor disabilities with little or no speech, and cortical visual impairment |
| Causes | Pathogenic variants in the gene CDKL5 |
| Diagnostic method | Genetic testing |
| Treatment | Antiseizure medications (ASMs) |
| Frequency | 1 in 42,000 live births |
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