| Disease ID | Source | Name | Description |
| 617669 | OMIM | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) | An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. The disease is caused by variants affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934). |