TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1S
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Cardiomyocyte mitochondrial proliferation (HP:0031320)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Obesity (HP:0001513)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Hypokalemia (HP:0002900)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Tachycardia (HP:0001649)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Tachycardia (HP:0001649)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Gene: CACNA1S
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Hypercapnia (HP:0012416)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Gene: CACNA1S
Phenotype: Hypercapnia (HP:0012416)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Weight loss (HP:0001824)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Weight loss (HP:0001824)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Pain (HP:0012531)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA2D1
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Bruxism (HP:0003763)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Syncope (HP:0001279)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Small hand (HP:0200055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: High palate (HP:0000218)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Focal impaired awareness hemiclonic seizure (HP:0032799)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNA2D1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Bradycardia (HP:0001662)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: CACNA2D1
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Macrotia (HP:0000400)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Ptosis (HP:0000508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Gene: CACNA2D1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNA2D1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CACNB2
Phenotype: Syncope (HP:0001279)
Associated disease: BRUGADA SYNDROME 4 (OMIM:611876)
Gene: CACNB2
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: CACNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 4 (OMIM:611876)
Gene: CACNB2
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)