| Disease ID | Source | Name | Description |
| 600251 | OMIM | Facial clefting, oblique, 1 (OBLFC1) | A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face. The disease is caused by variants affecting the gene represented in this entry. |
| 145410 | OMIM | Opitz GBBB syndrome 2 (GBBB2) | A form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. The disease is caused by variants affecting the gene represented in this entry. |
| 145420 | OMIM | Hypertelorism, Teebi type (TBHS) | An autosomal dominant syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Affected individuals have limb, urogenital, umbilical and cardiac defects. The disease may be caused by variants affecting the gene represented in this entry. |