| Disease ID | Source | Name | Description |
| 248390 | OMIM | Treacher Collins syndrome 3 (TCS3) | A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. The disease is caused by variants affecting the gene represented in this entry. |
| 616494 | OMIM | Leukodystrophy, hypomyelinating, 11 (HLD11) | An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. The disease is caused by variants affecting the gene represented in this entry. |