TaoMedAI/RareMedData huggingface dataset:
Gene: SLC2A1
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: SLC2A1
Phenotype: Zonular cataract (HP:0010920)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
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: SLC2A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Encephalopathy (HP:0001298)
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: Hypertonia (HP:0001276)
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: Hypertonia (HP:0001276)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Hypertonia (HP:0001276)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Hemiparesis (HP:0001269)
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: Confusion (HP:0001289)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Confusion (HP:0001289)
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: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Lethargy (HP:0001254)
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: Lethargy (HP:0001254)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
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: SLC2A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Gene: SLC2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Choreoathetosis (HP:0001266)
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: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Dysarthria (HP:0001260)
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: Dysarthria (HP:0001260)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Global developmental delay (HP:0001263)
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: Spastic paraplegia (HP:0001258)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Spasticity (HP:0001257)
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: Spasticity (HP:0001257)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Spasticity (HP:0001257)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
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: SLC2A1
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: SLC2A1
Phenotype: Inability to walk (HP:0002540)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Gene: SLC2A1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Gene: SLC2A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Dystonia (HP:0001332)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Dystonia (HP:0001332)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Dystonia (HP:0001332)
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: Dystonia (HP:0001332)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Absent speech (HP:0001344)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
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: SLC2A1
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Tremor (HP:0001337)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Gene: SLC2A1
Phenotype: Myoclonus (HP:0001336)
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: Myoclonus (HP:0001336)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
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: SLC2A1
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Gene: SLC2A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Migraine (HP:0002076)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Migraine (HP:0002076)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Chorea (HP:0002072)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Chorea (HP:0002072)
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: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Paralysis (HP:0003470)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Paralysis (HP:0003470)
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: Babinski sign (HP:0003487)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)