Disease ID | Source | Name | Description |
618426 | OMIM | Encephalopathy, acute, infection-induced, 9 (IIAE9) | An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection-induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. Disease susceptibility is associated with variants affecting the gene represented in this entry. |