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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (MODY11)
MODY11
613375
OMIM = Online Medalian Inheritance of Men
552
8p23.1
very rare
autosomal dominant
mutation in the BLK nonreceptor tyrosine kinase gene
symptoms
diabetes mellitus
obesity
laboratory finding
Literature
Stockler-Ipsiroglu S,van Karnebeek CDCerebral creatine deficiencies: a group of treatable intellectual developmental disordersSemin Neurol343350-3562014
Braissant OGAMT deficiency: 20 years of a treatable inborn error of metabolismMol Genet Metab11111-32014