TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Dystonia (HP:0001332)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Tremor (HP:0001337)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Floppy infant (HP:0008947)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Constipation (HP:0002019)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Progressive intervertebral space narrowing (HP:0004622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Dyspnea (HP:0002094)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Migraine (HP:0002076)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Chorea (HP:0002072)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Hypothermia (HP:0002045)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Apnea (HP:0002104)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Aphasia (HP:0002381)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Vitiligo (HP:0001045)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Multiple glomerular cysts (HP:0100611)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)