16p11.2 Deletion Syndrome ISO RGD:1602444 8554872 ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar autism spectrum disorder ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Autism spectrum disorders ClinVar PMID:18184952 , PMID:25255310 autistic disorder ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Autistic disorder of childhood onset ClinVar PMID:21681106 , PMID:30208311 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22243967 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:22744660 more ... Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:22209761 more ... Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:11179027 more ... Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:25741868 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:28492532 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:25741868 , PMID:28492532 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22399141 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22623405 Benign Familial Infantile Seizures, 2 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures more ... ClinVar PMID:12953268 , PMID:9579893 Developmental Disabilities ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 , PMID:28492532 epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:11179027 more ... epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by OMIM:128200 ClinVar PMID:22101681 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:26446061 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23190448 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28166811 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22464846 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22744660 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:26936445 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:25741868 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28166811 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:28492532 , PMID:32038460 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:17576681 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22209761 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:11179027 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22243967 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22832103 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23551744 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:26467025 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22623405 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia ClinVar PMID:22101681 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22209761 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22131361 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:23299620 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:26446061 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:23190448 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:19914906 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:22243967 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:25741868 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:24594579 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22985072 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:23063574 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:11346027 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23077024 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23077026 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23077024 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22101681 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22243967 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:22515636 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:24594579 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:22131361 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia ClinVar PMID:23077026 more ... episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:22832103 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:25741868 , PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:28492532 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:22399141 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar episodic kinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Dystonia 10 ClinVar PMID:22120146 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22120146 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar PMID:22464846 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar PMID:22744660 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar PMID:23190448 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Convulsions more ... ClinVar PMID:11179027 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:22832103 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:22243967 more ... Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:25741868 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Convulsions more ... ClinVar PMID:22243967 , PMID:28492532 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22832103 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 8554872 ClinVar Annotator: match by null ClinVar PMID:22744660 Febrile Seizures ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Complex febrile seizures ClinVar PMID:28492532 intellectual disability ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Intellectual disability, profound ClinVar PMID:25741868 Neurodevelopmental Disorders ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Neurodevelopmental disorder ClinVar PMID:25741868 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 ClinVar PMID:11179027 more ... schizophrenia ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Schizophrenia ClinVar PMID:21681106 , PMID:30208311 Spondylocostal Dysostosis 5 ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 more ... visual epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 , PMID:28492532 visual epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 visual epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 visual epilepsy ISO RGD:1602444 8554872 ClinVar Annotator: match by term: Focal seizures ClinVar PMID:11179027 more ...