The incidence rate of CDD is ~1 in 42,000 live births This is based on both the calculated incidence rate for<unk>  pathogenic mutations in a study population, as well as comparison studies in genetic testing cohorts, in which the frequency of<unk>  mutations is compared to that of genes whose associated<unk> s have more robust incidence estimates, such as SCN1A for Dravet syndrome.
CDKL5 deficiency disorder
NGLY1 deficiency
LRBA deficiency
ATR-16 syndrome
ZC4H2 deficiency
HUPRA syndrome
PGM3 deficiency
ATR-X syndrome