| Disease ID | Source | Name | Description |
| 616267 | OMIM | Ataxia-oculomotor apraxia 4 (AOA4) | An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 613402 | OMIM | Microcephaly, seizures, and developmental delay (MCSZ) | A disease characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly. The disease is caused by variants affecting the gene represented in this entry. |