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Disease association ontology term - MONDO:0018097 - infantile spasms

Term summary

ID
MONDO:0018097
Name
infantile spasms
Ontology or CV name
Disease association
Definition
A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.

Parents

Annotation

Disease association

MONDO:0018097 - infantile spasms

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Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

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MONDO:0014895 - developmental and epileptic encephalopathy, 40

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