TaoMedAI/RareMedData huggingface dataset:
Gene: SLC2A1
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: SLC2A1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
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: SLC2A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Status epilepticus (HP:0002133)
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: Episodic ataxia (HP:0002131)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Apraxia (HP:0002186)
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: Paresthesia (HP:0003401)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Increased intracellular sodium (HP:0003575)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Muscle stiffness (HP:0003552)
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: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
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: SLC2A1
Phenotype: Generalized hyperreflexia (HP:0007034)
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: 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: SLC2A1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Hypoglycorrhachia (HP:0011972)
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: Paroxysmal lethargy (HP:0011973)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Sleep abnormality (HP:0002360)
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: Sleep abnormality (HP:0002360)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: EEG abnormality (HP:0002353)
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: EEG abnormality (HP:0002353)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Headache (HP:0002315)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Headache (HP:0002315)
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: Headache (HP:0002315)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
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: SLC2A1
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: SLC2A1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Dyskinesia (HP:0100660)
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: 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: SLC2A1
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: SLC2A1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Diplopia (HP:0000651)
Associated disease: DYSTONIA 9 (OMIM:601042)
Gene: SLC2A1
Phenotype: Diplopia (HP:0000651)
Associated disease: Episodic choreoathetosis/spasticity; Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9 (ORPHA:53583)
Gene: SLC2A1
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Short stature (HP:0004322)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Short stature (HP:0004322)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Irritability (HP:0000737)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Irritability (HP:0000737)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
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: SLC2A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: SLC2A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Short thorax (HP:0010306)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Jaundice (HP:0000952)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Jaundice (HP:0000952)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Cyanosis (HP:0000961)
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: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Gene: SLC2A1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
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: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Progressive microcephaly (HP:0000253)
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: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
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: SLC2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Central apnea (HP:0002871)
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: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Growth delay (HP:0001510)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
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: SLC2A1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
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: SLC2A1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)