| Disease ID | Source | Name | Description |
| 262000 | OMIM | Bjoernstad syndrome (BJS) | An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. The disease is caused by variants affecting the gene represented in this entry. |
| 124000 | OMIM | Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) | A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. The disease is caused by variants affecting the gene represented in this entry. |
| 603358 | OMIM | GRACILE syndrome (GRACILE) | GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. The disease is caused by variants affecting the gene represented in this entry. |