| Disease ID | Source | Name | Description |
| 264470 | OMIM | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) | A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. The disease is caused by variants affecting the gene represented in this entry. |
| 618960 | OMIM | Mitchell syndrome (MITCH) | A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss. The gene represented in this entry is involved in disease pathogenesis. |