Table 4 Clinical features of BWS KCNQ1OT1 TSS-DMR LOM cases with rare DNMT1 missense variants.
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 | Â |
Hepatomegaly | Y | N | N |
Nephromegaly | N | N | N |
ART | Y | N | N |
Family history | N | Y (sibling affected) | N |
Sex | F | F | M |