Mondo Disease Ontology

Last uploaded: February 4, 2025
Id http://purl.obolibrary.org/obo/MONDO_0100254
http://purl.obolibrary.org/obo/MONDO_0100254
Preferred Name

CACNA1A-related complex neurodevelopmental disorder

Definitions
A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
Synonyms
Type http://www.w3.org/2002/07/owl#Class
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