<unk>  is a very rare genetic disorder caused by biallelic pathogenic variants in<unk> . It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement disorder.<unk>  is difficult to diagnose, and most individuals have been identified by exome sequencing.<unk>  causes a dysfunction in the endoplasmic reticulum-associated degradation pathway.<unk>  encodes an enzyme, N-glycanase 1, that cleaves N-glycans. Without N-glycanase, N-glycosylated proteins that are misfolded in the endoplasmic reticulum cannot be degraded, and thus accumulate in the cytoplasm of cells.
NGLY1 deficiency
LRBA deficiency
WNT4 deficiency
PMM2 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
CDKL5 deficiency disorder
DOCK8 deficiency