| Disease ID | Source | Name | Description |
| 213980 | OMIM | Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) | A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. The disease is caused by variants affecting the gene represented in this entry. |
| 137760 | OMIM | Glaucoma 1, open angle, E (GLC1E) | A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Disease susceptibility is associated with variants affecting the gene represented in this entry. |