Disease #01929 (ML-2;ICD (mucolipidosis, type II, alpha/beta (ML-2, I cell disease (ICD))), OMIM:252500)

Official abbreviation ML-2;ICD
Name mucolipidosis, type II, alpha/beta (ML-2, I cell disease (ICD))
OMIM ID 252500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene GNPTAB
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Disease features -
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Individuals

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00168036 BL - - M ? Germany - 03y 0 - - ML-2;ICD - GNPTAB GNPTAB 2 1 Renata Voltolini Velho
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