Disease ID | Source | Name | Description |
614920 | OMIM | Peroxisome biogenesis disorder 14B (PBD14B) | An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. The disease is caused by variants affecting the gene represented in this entry. |