| Disease ID | Source | Name | Description |
| 613710 | OMIM | Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) | A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 607196 | OMIM | Microcephaly, Amish type (MCPHA) | A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. The disease is caused by variants affecting the gene represented in this entry. |