TaoMedAI/RareMedData huggingface dataset:
Gene: SLC5A1
Phenotype: Hypernatremia (HP:0003228)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Hyperactive bowel sounds (HP:0030143)
Associated disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Gene: SLC5A1
Phenotype: Hyperactive bowel sounds (HP:0030143)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A1
Phenotype: Weight loss (HP:0001824)
Associated disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Gene: SLC5A2
Phenotype: Polyphagia (HP:0002591)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Moderate postnatal growth retardation (HP:0008855)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Nephropathy (HP:0000112)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Polyuria (HP:0000103)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Dehydration (HP:0001944)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Ketosis (HP:0001946)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Polydipsia (HP:0001959)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Glycosuria (HP:0003076)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Glycosuria (HP:0003076)
Associated disease: RENAL GLUCOSURIA (OMIM:233100)
Gene: SLC5A2
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Enuresis (HP:0000805)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: Familial renal glucosuria; SGLT2 deficiency; Familial renal glycosuria (ORPHA:69076)
Gene: SLC5A5
Phenotype: Lethargy (HP:0001254)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Macroglossia (HP:0000158)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Constipation (HP:0002019)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Hypothermia (HP:0002045)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Goiter (HP:0000853)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Dry skin (HP:0000958)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Facial edema (HP:0000282)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Growth delay (HP:0001510)
Associated disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Gene: SLC5A5
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Bradycardia (HP:0001662)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC5A5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: SLC6A1
Phenotype: Syndactyly (HP:0001159)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Ataxia (HP:0001251)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Abnormal emotional state (HP:0100851)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Tremor (HP:0001337)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Tremor (HP:0001337)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Wide mouth (HP:0000154)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Frontal balding (HP:0002292)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC6A1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Gene: SLC6A1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)