CACNA1A-related complex neurodevelopmental disorder
MONDO:0100254Mondo
Findings
No curated finding names CACNA1A-related complex neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100254), read 2026-09-29. CC BY 4.0.