Disease ID | Source | Name | Description |
618863 | OMIM | Retinal dystrophy with leukodystrophy (RDLKD) | An autosomal recessive disorder characterized by progressive leukodystrophy associated with developmental delay, spastic paraparesis, ataxia, and retinal dystrophy. Patients may show facial dysmorphism. Laboratory investigations reveal an abnormal profile of very-long chain fatty acid in plasma. The disease is caused by variants affecting the gene represented in this entry. |