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Summary
NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED IPEX
304790
OMIM = Online Medalian Inheritance of Men
37042
Xp11.23-q13.3
X-linked autosomal locus (?)
symptoms
anemia
diarrhea
eczematoid skin rush
enteropathy, protein-loosing
hyperglycemia
ileus
infections (severe or recurrent)
thrombopenia, thrombocytopenia
laboratory finding
Literature
Ward Cet al.A mild form of mucolipidosis type III in four Baluch siblingsClin Genet446313-3191993
Fowler MLet al.Correction of mucolipidosis II in vitro by gene transferGenomics182236-2431993
Zammarchi Eet al.Self mutilation in patient with mucolipidosis IIIPediatr Neurol11168-701994
Owada MI-cell disease and pseudo-Hurler polydystrophyNippon Rinsho53123028-30341995
Brik Ret al.Mucolipidosis III presenting as a rheumatological disorderJ Rheumatol201133-1361993