Fanconi-Bickel syndrome | SCL2A2 (GLUT2) | 3q26.1-26.3 | AR | hypergalatosemia; liver dysfunction |
Roger syndrome | SCL19A2 | 1q23.3 | AR | thiamine-sensorinueral responsive deafness megaloblastic anemia; |
Abnormal development pancreatic | RFX6 | 6q22.1 | AR | intestinal atresia + bladder agenesis |
| GATA6 | 18q11-q11.2 | AD | pancreatic biliary abnormalities agenesis; heart defects; |
| GATA4 | 8p23.1 | AD | pancreatic agenesis + heart defects |
| GLIS3 | 9p24.3-p23 | AR | congenital hepatic fibrosis; hypothyridism; renal cysts glaucoma; |
| NEURG3 | 10q21.3 | AR | malabsorbtive diarrhea |
| NEUROD1 | 2q32 | AR | cerebellar deafness hypoplasia; visual impairment; |
| PAX6 | 11.p13 | AR | microphtalmia; brain malformations |
| MNX1 | 7q36.3 | AR | developmental imperforate anus delay; sacral agenesis; |
| MNX2-2 | 20p11.22 | AR | developmental deafness delay; hypotonia; short stature; |
| PTF1 | 10.p12.2 | AR | pancreatic hypoplasia; cerebellar hypoplasia |
Destruction of β-cells | | | | |
Wolcott-Rallison syndrome | EIF2AK3 | 2p11.2 | de novo or AD | skeletal dysplasia; liver dysfunction |
| IER3IP1 | 18q21.2 | AR | microcephaly; lisencephaly; enceph-alopathy |
IPEX syndrome | FOXP3 | Xp11.23-p13.3 | X-recessive linked; | autoimmune autoimmune enteropathy; hypothyroidism; eczema |
Wolfram (DIDMOAD)syndrome a | WFS1 | 4p16.1 | AR | optic atrophy; DM; DI |
| WFS1 | 4p16.1 | AD | congenital cataracts; deafness |