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Mucolipidosis type II
Relevant markers:
Epiphysheal stipplingHepatomegalyHydropsSplenomegalyHypomineralizationBroad irregular rib/s
Involved genes:
(gene — definition — chromosome)GNPTAB — N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS — 12q23.2 Inheritance mode: AR Other online databases: OMIM References: 2017 J Inherit Metab Dis Review Read on PubMed Login for more details.