Forty-seven patients with confirmed<unk>  have been reported in the medical literature. Patient advocacy groups have reported approximately 100 patients have been identified. Currently, the majority of individuals reported with<unk>  are of northern European descent, however this likely reflects an ascertainment bias in these early stages of the disorder. Affected individuals with African and Hispanic backgrounds have been identified.
NGLY1 deficiency
LRBA deficiency
WNT4 deficiency
PMM2 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
CDKL5 deficiency disorder
DOCK8 deficiency