RS387907281 ATP1A3
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What This Variant Does
"CLNSIG=5
Associated Conditions
Alternating hemiplegia of childhood 2
Dystonia 12
Global developmental delay
Hemiplegia
Oculogyric crisis
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Inborn genetic diseases
Developmental and epileptic encephalopathy 99
Neurodevelopmental delay
Seizure
Dyskinesia
Dystonic disorder
Alternating hemiplegia of childhood 2
Dystonia 12
Global developmental delay
Other Variants in ATP1A3