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| Atelosteogenesis, type III, 108721 (3): Located in omimdefinitions
| Boomerang dysplasia, 112310 (3): Located in omimdefinitions
| ?Zimmermann-Laband syndrome (2): Located in omimdefinitions
| Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3): Located in omimdefinitions
| Spinocerebellar ataxia 7, 164500 (3): Located in omimdefinitions
| Adams-Oliver syndrome 4, 615297 (3): Located in omimdefinitions
| Mental retardation with language impairment and autistic features, 613670 (3): Located in omimdefinitions
| {Hypertension, essential, susceptibility to, 7} (2): Located in omimdefinitions
| Waardenburg syndrome, type 2A, 193510 (3): Located in omimdefinitions
| Waardenburg syndrome/ocular albinism, digenic, 103470 (3): Located in omimdefinitions

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