Familial coloboma without genetic localisation
| OMIM number | Disease | Type of coloboma | Inheritance pattern | Reference |
|---|---|---|---|---|
| For abbreviations see table 1. | ||||
| Autosomal dominant conditions | ||||
| 184705 | Steinfeld syndrome | I, R | AD | Nothen et al143 |
| 602499 | Macrophthalmia | I, R, O | AD | Toker et al144 |
| 120433 | Coloboma/cleft lip and palate/MR/deafness | I, R, C, O, M | AD | Ravine et al145 |
| 102490 | Acro-reno-ocular syndrome | I, C, O | AD | Aalfs et al146 |
| 113620 | Branchio-oculo-facial | I, R, O, M | AD | Richardson et al147 |
| 280000 | Chime syndrome | R | AD | Shashi et al148 |
| 142500 | Heterochromia iridis | I | AD | Morrison et al149 |
| 147920 | Kabuki syndrome | I, R, C, O | AD | Ming et al150 |
| 157980 | MOMO syndrome | R | AD | Moretti-Ferreira et al151 |
| 155145 | Pai syndrome | I | AD | Rudnik-Schoneborn and Zerres152 |
| 601707 | Curry-Jones syndrome | I, M | AD | Temple et al153 |
| 201350 | Biemond syndrome type 2 | I, R, M | AD, AR | Verloes et al154 |
| Autosomal recessive conditions | ||||
| 601706 | Yemenite deaf-blind (severe) | I, C | AR | Bondurand et al155 |
| 223370 | Dubowitz syndrome | I, M | AR | Tsukahara and Opitz156 |
| 218340 | Temtamy syndrome | I, R, C | AR | Temtamy et al157 |
| 216820 | Ocular coloboma | R, C | AR | Pagon et al158 |
| 229400 | Frontofacionasal dysostosis | I, L | AR | Gollop et al159 |
| 220210 | Ritscher-Schinzel syndrome | I, R | AR | Leonardi et al160 |
| 251505 | Microphthalmia | R, C | AR | Porges et al161 |
| 222448 | Donnai-Barrow syndrome | I | AR | Avunduk et al162 |
| 216360 | COACH syndrome | I, C, O | AR | Verloes and Lambotte163 |
| 274205 | Hypoplastic thumb, coloboma | C | AR | Ward et al164 |
| 601427 | Anterior chamber cleavage | I | AR | Jung et al165 |
| 244300 | Kapur-Toriello | I | AR | Kapur and Toriello166 |
| 215105 | Chondrodysplasia punctata | R | AR | Toriello et al167 |
| X-linked conditions | ||||
| 258865 | Oral-facial-digital type VIII | R, C | X-linked | Gurrieri et al168 |
| 302380 | Catel-Manzke syndrome | I | X-linked | Wilson et al169 |
| 600122 | Verloes syndrome | C | Probably X-linked | de Die-Smulders et al170 |
| Inheritance pattern not yet determined | ||||
| 234100 | Hallermann-Streiff syndrome | I, C, O, M | Sporadic | Cohen171 |
| 163200 | Nevus sebaceous of Jadassohn | I, C, L | Sporadic | Baker et al32 |
| 136760 | Frontonasal dysplasia | R, C | Sporadic | Temple et al172 |
| 165630 | Organoid nevus phakomatosis | R, C | Mosaicism | Neumann et al173 |
| 601359 | Sebaceous nevus syndrome | I | Mosaicism | Dodge and Dobyns174 |
| 107550 | Aortic arch anomalies | R | Twins | Levin et al175 |
| – | Familial iris coloboma | I | Pre-mutation | Barros-Nunez et al176 |