Disease ID | Source | Name | Description |
618331 | OMIM | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB) | An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. The disease may be caused by variants affecting the gene represented in this entry. |