| Disease ID | Source | Name | Description |
| 615398 | OMIM | Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) | An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. The disease is caused by variants affecting the gene represented in this entry. |
| 615399 | OMIM | Paroxysmal nocturnal hemoglobinuria 2 (PNH2) | A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. Disease susceptibility is associated with variants affecting the gene represented in this entry. |