GNPTAB-mucolipidosis

Definition

An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.

Also known as GNPTAB-related disorder, UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency — per MONDO