Gene | Location | Inheritance | Clinical features |
---|---|---|---|
PLAGL1, HYMAI | 6q24 | Variable (imprinting) | Transient NDM |
 | ± Macroglossia, ± Umbilical Hernia, ± Other features if part of generalized hypomethylation syndrome | ||
KCNJ11 | 11p15.1 | De novo, Dominant or Recessive | Permanent or Transient NDM, ± Developmental delay, epilepsy, neonatal diabetes (DEND) syndrome |
ABCC8 | 11p15.1 | De novo, Dominant or Recessive | Transient or Permanent NDM, ± DEND syndrome |
EIF2AK3 | 6q22.1 | Recessive | Wolcott-Rallison Syndrome: Permanent NDM Short stature Bone dysplasia Hepatic dysfunction |
INS | 11p15.5 | Recessive | Isolated permanent or transient NDM |
GCK | 7p15-p13 | Recessive | Isolated permanent NDM |