| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Autosomal recessive non-syndromic intellectual disability | MONDO:0019502 | 70 | |
| Congenital sucrase-isomaltase deficiency | MONDO:0009114 | 6 | SI |
| Glucose transport disorder | MONDO:0019226 | 4 | |
| Salla disease | MONDO:0011449 | SLC17A5 | |
| Childhood onset GLUT1 deficiency syndrome 2 | MONDO:0012805 | SLC2A1 | |
| Chronic diarrhea due to glucoamylase deficiency | MONDO:0015169 | ||
| Congenital lactase deficiency | MONDO:0009115 | LCT | |
| Diarrhea-vomiting due to trehalase deficiency | MONDO:0012803 | TREH | |
| Dystonia 9 | MONDO:0010983 | SLC2A1 | |
| Exercise-induced hyperinsulinism | MONDO:0012396 | SLC16A1 | |
| Free sialic acid storage disease, infantile form | MONDO:0010027 | SLC17A5 | |
| Hereditary cryohydrocytosis with reduced stomatin | MONDO:0012143 | SLC2A1 | |
| Intermediate severe Salla disease | MONDO:0017737 | ||
| Juvenile cataract-microcornea-renal glucosuria syndrome | MONDO:0012786 | SLC16A12 |
Rare disease
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