GNPTAB-mucolipidosis
MONDO:0100122An 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
0 clinical trials for this condition and its sub-types, 0 tagged with GNPTAB-mucolipidosis itself.
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Sub-types of GNPTAB-mucolipidosis
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Mucolipidosis type II 0 trials
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Mucolipidosis type III, alpha/beta 0 trials
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