TaoMedAI/RareMedData huggingface dataset:
Gene: ACTL6B
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: ACTL6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
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: ACTL6B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Diastema (HP:0000699)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
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: ACTL6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Gene: ACTL6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Broad forehead (HP:0000337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
Phenotype: Small nail (HP:0001792)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: ACTL6B
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: ACTL6B
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: ACTL6B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Gene: ACTL6B
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: PRKAG2
Phenotype: Left axis deviation (HP:0033568)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: T-wave inversion (HP:0010872)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Syncope (HP:0001279)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Anasarca (HP:0012050)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Hypotension (HP:0002615)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Macroglossia (HP:0000158)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Apnea (HP:0002104)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Atrial flutter (HP:0004749)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Increased myocardial glycogen content (HP:0034532)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Palpitations (HP:0001962)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Third trimester onset (HP:0034197)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Young adult onset (HP:0011462)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Myopathy (HP:0003198)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Cyanosis (HP:0000961)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: ST segment depression (HP:0012250)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: ST segment elevation (HP:0012251)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Ascites (HP:0001541)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Peripheral edema (HP:0012398)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Bradycardia (HP:0001662)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Breech presentation (HP:0001623)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PRKAG2
Phenotype: Ventricular preexcitation with multiple accessory pathways (HP:0006684)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: PRKAG2
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Gene: PRKAG2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Gene: PRKAG2
Phenotype: Cataract (HP:0000518)
Associated disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Gene: DDX41
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Lymphoma (HP:0002665)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Asthma (HP:0002099)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Adult onset (HP:0003581)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Refractory anemia (HP:0005505)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)