Rare genetic intellectual disability with developmental anomaly Alacrimia-choreoathetosis-liver dysfunction syndrome OMIM:615273 N-glycanase 1 deficiency NGLY1 deficiency CDG1V Gautier Koscielny congenital disorder of glycosylation type Iv Deficiency of N-glycanase 1 Alacrimia choreoathetosis liver dysfunction syndrome NGLY1-CDG ICD10:E77.8 congenital disorder of deglycosylation Other metabolic disease