| Disease ID | Source | Name | Description |
| 607483 | OMIM | Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) | An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. The disease is caused by variants affecting the gene represented in this entry. |