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GTR Home > Conditions/Phenotypes > Encephalopathy, acute, infection-induced, susceptibility to, 9

Encephalopathy, acute, infection-induced, susceptibility to, 9

Summary

Susceptibility to acute infection-induced encephalopathy-9 (IIAE9) is an autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness. Patients present in the first months or years of life, often after normal or only mildly delayed early development. Some patients may have partial recovery between episodes, such as transient ataxia, but the overall disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy (summary by Fichtman et al., 2019). For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAIN, CAN, IIAE9, NUP214
    Summary: nucleoporin 214

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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