Syndrome, Chudley– Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman- Myers Syndrome X,XR,XD,G 98.5 NA of NA CACNA1A Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 2, Spinocerebellar Ataxia, Benign Paroxysmal Torticollis [igenomix.es]

Mitochondrial DNA Deletions, Alpers-Huttenlocher Syndrome, Progressive External Ophthalmoplegia, Sensory Ataxic Neuropathy-Dysarthria- Ophthalmoparesis Syndrome AD,AR 99.92 325 of 326 PPP2R5D Autosomal Dominant Mental Retardation, Intellectual Disability-Macrocephaly [igenomix.es]

With Febrile Seizures Plus, Dravet Syndrome AD,AR 99.67 46 of 48 SCN2A Early Infantile Epileptic Encephalopathy, Episodic Ataxia, Seizures, Benign Familial Neonatal-Infantile, Dravet Syndrome, West Syndrome AD 100 351 of 351 SLC19A3 Infantile Spasms-Psychomotor [igenomix.es]

Epileptic Encephalopathy AR 100 36 of 36 POLG Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Alpers-Huttenlocher Syndrome, Progressive External Ophthalmoplegia, Sensory Ataxic Neuropathy-Dysarthria [igenomix.es]

Convulsions, Dravet Syndrome, Familial Or Sporadic Hemiplegic Migraine, Lennox-Gastaut Syndrome AD 99.8 1776 of 1797 SCN1B Early Infantile Epileptic Encephalopathy, Generalized Epilepsy With Febrile Seizures Plus, Dravet Syndrome AD,AR 99.67 46 of 48 [igenomix.es]

Movements AD 100 47 of 47 GOSR2 Progressive Myoclonic Epilepsy AR 88.39 6 of 6 GRIN1 Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures AD,AR 100 43 of 43 GRIN2A Focal Epilepsy, With Speech Disorder And With Or Without Mental [igenomix.es]

CACNA1A Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 2, Spinocerebellar Ataxia, Benign Paroxysmal Torticollis Of Infancy, Familial Or Sporadic Hemiplegic Migraine AD 96.13 249 of 266 CASK X-linked Mental Retardation With Or Without Nystagmus [igenomix.es]