TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Autism (HP:0000717)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Inverted nipples (HP:0003186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CACNA1C
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Stridor (HP:0010307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Pes valgus (HP:0008081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: J wave (HP:0012272)
Associated disease: BRUGADA SYNDROME 3 (OMIM:611875)
Gene: CACNA1C
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA1C
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: BRUGADA SYNDROME 3 (OMIM:611875)
Gene: CACNA1C
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: BRUGADA SYNDROME 3 (OMIM:611875)
Gene: CACNA1C
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Camptodactyly (HP:0012385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Bronchitis (HP:0012387)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 8 (OMIM:618447)
Gene: CACNA1C
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA1C
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: LONG QT SYNDROME 8 (OMIM:618447)
Gene: CACNA1C
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Sudden death (HP:0001699)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CACNA1C
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA1C
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Round face (HP:0000311)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CACNA1C
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: BRUGADA SYNDROME 3 (OMIM:611875)
Gene: CACNA1C
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 8 (OMIM:618447)
Gene: CACNA1C
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA1C
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 8 (OMIM:618447)
Gene: CACNA1C
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: Bradycardia (HP:0001662)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CACNA1C
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: LONG QT SYNDROME 8 (OMIM:618447)
Gene: CACNA1C
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CACNA1C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TIMOTHY SYNDROME (OMIM:601005)
Gene: CACNA1C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1C
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CACNA1C
Phenotype: Shallow orbits (HP:0000586)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Gene: CACNA1D
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Syncope (HP:0001279)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Seizure (HP:0001250)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Spasticity (HP:0001257)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Nausea (HP:0002018)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Primary hyperaldosteronism (HP:0011736)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Congenital onset (HP:0003577)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Headache (HP:0002315)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Abnormal QRS complex (HP:0025074)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Athetosis (HP:0002305)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Athetosis (HP:0002305)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Increased heart rate variability (HP:0031862)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Polydipsia (HP:0001959)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Caesarean section (HP:0011410)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Hypertension (HP:0000822)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Hypertension (HP:0000822)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Hypokalemia (HP:0002900)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Tinnitus (HP:0000360)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Bradycardia (HP:0001662)
Associated disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Gene: CACNA1D
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Gene: CACNA1D
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1D
Phenotype: Epistaxis (HP:0000421)
Associated disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Gene: CACNA1E
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Congenital contracture (HP:0002803)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1E
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 (OMIM:618285)
Gene: CACNA1F
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)