TaoMedAI/RareMedData huggingface dataset:
Gene: GAA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Difficulty descending stairs (HP:0033235)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Pleural effusion (HP:0002202)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Low-output congestive heart failure (HP:0009805)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Elevated urine glucose tetrasaccharide level (HP:6001008)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Fever (HP:0001945)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Young adult onset (HP:0011462)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Reduced muscle alpha-1,4-glucosidase activity (HP:6000088)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Heart murmur (HP:0030148)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 26 (OMIM:605428)
Gene: GAB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 26 (OMIM:605428)
Gene: GABBR1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Encopresis (HP:0040183)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Increased femoral anteversion (HP:0012427)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABBR1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Gene: GABRA1
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRA1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRA1
Phenotype: Photosensitive myoclonic seizure (HP:0001327)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRA1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRA1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Rigidity (HP:0002063)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRA1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRA1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRA1
Phenotype: Dyslexia (HP:0010522)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Gene: GABRA1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRA1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)