Four common findings have been identified in a majority of patients: developmental delay or intellectual disability of varying degrees, lack of or greatly reduced tears, elevated liver transaminases, and a complex movement disorder. The elevated liver enzymes often resolve in childhood. In addition, approximately 50% of patients described with<unk>  have seizures, which can vary in their difficulty to control. Other symptoms that have been reported in affected individuals include sleep apnea, constipation, scoliosis, oral motor defects, auditory neuropathy and peripheral neuropathy.
NGLY1 deficiency
LRBA deficiency
WNT4 deficiency
PMM2 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
CDKL5 deficiency disorder
DOCK8 deficiency