| Disease ID | Source | Name | Description |
| 212720 | OMIM | Martsolf syndrome (MARTS) | Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 614225 | OMIM | Warburg micro syndrome 2 (WARBM2) | A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. The disease is caused by variants affecting the gene represented in this entry. |