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Table 4 Clinical features of BWS KCNQ1OT1 TSS-DMR LOM cases with rare DNMT1 missense variants.

From: Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Clinical feature B66 (p.Arg1223His) B96 (p.His1118Arg) B97 (p.Arg136Cys)
Birth weight (kg) 3.1 4.54 3.43
Neonatal hypoglycaemia Y N N
Exomphalos/umbilical hernia Y Y N
Macroglossia Y Y Y
Macrosomia N Y Y
Ear creases Y N Y
Malignancy N N N
Facial naevus flammeus N N N
Body asymmetry N N N
Genitourinary abnormality N N  
Hepatomegaly Y N N
Nephromegaly N N N
ART Y N N
Family history N Y (sibling affected) N
Sex F F M