| Disease ID | Source | Name | Description |
| 616154 | OMIM | Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD) | An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. The disease is caused by variants affecting the gene represented in this entry. |