All individuals with variants in gene LINC00893

2 entries on 1 page. Showing entries 1 - 2.
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00455453 Pat1 PubMed: Karsten 1997 - M - Sweden - - - - - MPS see paper; ..., birth weight of 3950g, length 62 cm, OFC 34 cm; 6m-sit, 11m-walk; recurrent infections respiratory tract/middle ears; 3y-hearing aid; hernias (inguinal, umbilical), hepatosplenomegaly; intellectual disability 5y-IQ60) 1 1 Johan den Dunnen
00455454 patient PubMed: Lagerstedt 2000 - M - - - - - - - MPS see paper; ..., <7m-smile, 12m-sit, 18m-stand, 24m-walk, 36m-speak few words, sensory hearing deficit; 2y-joint stiffness, no skeletal anomalies; slight facial dysmorphism, mild coarsening, slight microorchidism; 4y-skeletal changes, macrocephaly, full lips, macroglossia, severe hepatomegaly, large inguinal hernia 1 1 Johan den Dunnen
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