TaoMedAI/RareMedData huggingface dataset:
Gene: SLC2A1
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: SLC2A1
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: SLC2A1
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: SLC2A1
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)
Gene: SLC2A1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Macrotia (HP:0000400)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Classic GLUT1-DS; De Vivo disease; Encephalopathy due to GLUT1 deficiency; Classic glucose transporter type 1 deficiency syndrome; Classic GLUT1 deficiency syndrome (ORPHA:71277)
Gene: SLC2A1
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Anteverted nares (HP:0000463)
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: SLC2A1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Broad neck (HP:0000475)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Short neck (HP:0000470)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Wide nasal bridge (HP:0000431)
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: SLC2A1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Cataract (HP:0000518)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Cataract (HP:0000518)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Prominent forehead (HP:0011220)
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: SLC2A1
Phenotype: Microphthalmia (HP:0000568)
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: SLC2A1
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: Classic GLUT1-DS; De Vivo disease; Encephalopathy due to GLUT1 deficiency; Classic glucose transporter type 1 deficiency syndrome; Classic GLUT1 deficiency syndrome (ORPHA:71277)
Gene: SLC2A2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Proteinuria (HP:0000093)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC2A2
Phenotype: Beta 2-microglobulinuria (HP:0025466)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Abnormal hepatic glycogen storage (HP:0500030)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Nephropathy (HP:0000112)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Rickets (HP:0002748)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Rickets (HP:0002748)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Osteomalacia (HP:0002749)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Malabsorption (HP:0002024)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC2A2
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC2A2
Phenotype: Hypouricemia (HP:0003537)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Bone fracture (HP:0020110)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Galactose intolerance (HP:0004919)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Impairment of galactose metabolism (HP:0004915)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC2A2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Acidosis (HP:0001941)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Glycosuria (HP:0003076)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Poor appetite (HP:0004396)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC2A2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Doll-like facies (HP:0000295)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Growth delay (HP:0001510)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Ketonuria (HP:0002919)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Glycogen storage disease due to GLUT2 deficiency; Glycogenosis due to GLUT2 deficiency; GSD due to GLUT2 deficiency; Fanconi-Bickel syndrome (ORPHA:2088)
Gene: SLC2A2
Phenotype: Chronic acidosis (HP:0012468)
Associated disease: FANCONI-BICKEL SYNDROME (OMIM:227810)
Gene: SLC2A3
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Seizure (HP:0001250)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Polyphagia (HP:0002591)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Dystonia (HP:0001332)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Staring gaze (HP:0025401)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Rigidity (HP:0002063)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Chorea (HP:0002072)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Babinski sign (HP:0003487)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Clonus (HP:0002169)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Insomnia (HP:0100785)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Memory impairment (HP:0002354)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Mutism (HP:0002300)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Clumsiness (HP:0002312)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormally slow thought process (HP:0031843)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Hallucinations (HP:0000738)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Irritability (HP:0000737)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Anxiety (HP:0000739)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Disinhibition (HP:0000734)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Delusion (HP:0000746)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Apathy (HP:0000741)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Depression (HP:0000716)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Agitation (HP:0000713)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Choking episodes (HP:0030842)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Anger (HP:0031473)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: SLC2A3
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)