TaoMedAI/RareMedData huggingface dataset:
Gene: KCND3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Postural instability (HP:0002172)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Middle age onset (HP:0003596)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Poor coordination (HP:0002370)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Palpitations (HP:0001962)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Diplopia (HP:0000651)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Presyncope (HP:0031972)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Young adult onset (HP:0011462)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: ST segment elevation (HP:0012251)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Spinocerebellar ataxia type 19/22; SCA19/22 (ORPHA:98772)
Gene: KCND3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCND3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: BRUGADA SYNDROME 9 (OMIM:616399)
Gene: KCND3
Phenotype: Intermittent microsaccadic pursuits (HP:0007944)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCND3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCND3
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 19 (OMIM:607346)
Gene: KCNE1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Syncope (HP:0001279)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Syncope (HP:0001279)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Seizure (HP:0001250)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNE1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE1
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Gene: KCNE1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: LONG QT SYNDROME 5 (OMIM:613695)
Gene: KCNE1
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: KCNH1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Thickened ears (HP:0009894)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Seizure (HP:0001250)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Seizure (HP:0001250)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Seizure (HP:0001250)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Seizure (HP:0001250)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Thick hair (HP:0100874)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Delayed phalangeal epiphyseal ossification (HP:0006016)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Long penis (HP:0000040)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Absent speech (HP:0001344)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Open mouth (HP:0000194)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Wide mouth (HP:0000154)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Wide mouth (HP:0000154)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: KCNH1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ZIMMERMANN-LABAND SYNDROME 1 (OMIM:135500)
Gene: KCNH1
Phenotype: Constipation (HP:0002019)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Constipation (HP:0002019)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Short columella (HP:0002000)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Gene: KCNH1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Temple-Baraitser syndrome; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; TMBTS (ORPHA:420561)
Gene: KCNH1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: TEMPLE-BARAITSER SYNDROME (OMIM:611816)