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GNPTAB-mucolipidosis
rareAn 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.
- Identifiers
- MONDO:0100122
- Causal genes
- GNPTAB
- Part of
- Mucolipidosis
- Also known as
- GNPTAB-related disorder · UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
Subtypes
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