| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Warburg Micro Syndrome 3 (WARBM3, RAB18) | Brain, eye, & endocrine abnormalities | Autosomal Recessive | 10p12.1 | Missense | RAB18 | 71T>A | Leu24Gln | Amino Acid Substitution | Bem et al., 2011/2011 |
