| Disease ID | Source | Name | Description |
| 618973 | OMIM | Neurodegeneration, infantile-onset, biotin-responsive (NERIB) | An autosomal recessive disorder characterized by early infantile onset, progressive neurodegeneration, global developmental delay, and developmental regression with loss of early motor and cognitive milestones. Additional variable features include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Treatment with biotin, pantothenic acid, and lipoate may result in clinical improvement. The disease is caused by variants affecting the gene represented in this entry. |