Disease ID | Source | Name | Description |
617667 | OMIM | Fraser syndrome 3 (FRASRS3) | A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. The disease is caused by variants affecting the gene represented in this entry. |