GNPTAB-mucolipidosis
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.
MONDO:0019248
mucolipidosis
is_a
GNPTAB-related disorder
exact
UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
exact