Alacrimia-choreoathetosis-liver dysfunction syndrome

• Alacrimia choreoathetosis liver dysfunction syndrome
• CDG1V
• Deficiency of N-glycanase 1
• N-glycanase 1 deficiency
• NGLY1 deficiency
• NGLY1-CDG
• congenital disorder of deglycosylation
• congenital disorder of glycosylation type Iv

• Other metabolic disease
• Rare genetic intellectual disability with developmental anomaly