TaoMedAI/RareMedData huggingface dataset:
Gene: KCNQ1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Bradycardia (HP:0001662)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Bradycardia (HP:0001662)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ2
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Myokymia (HP:0002411)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Hypertonia (HP:0001276)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Hypertonia (HP:0001276)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Motor delay (HP:0001270)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Seizure (HP:0001250)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Hypotonia (HP:0001252)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Hypotonia (HP:0001252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Inability to walk (HP:0002540)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Inability to walk (HP:0002540)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Dystonia (HP:0001332)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Staring gaze (HP:0025401)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Circumoral cyanosis (HP:0032556)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Nausea (HP:0002018)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Apnea (HP:0002104)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Apnea (HP:0002104)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Apnea (HP:0002104)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Apnea (HP:0002104)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Clonus (HP:0002169)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Postural instability (HP:0002172)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Facial erythema (HP:0001041)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Vertigo (HP:0002321)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Headache (HP:0002315)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Gene: KCNQ2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Gene: KCNQ2
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Facial tics (HP:0011468)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)