TaoMedAI/RareMedData huggingface dataset:
Gene: MTM1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Poor suck (HP:0002033)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Blind vagina (HP:0040314)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Low APGAR score (HP:0030917)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Pneumonia (HP:0002090)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Birth length greater than 97th percentile (HP:0003517)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Tube feeding (HP:0033454)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Slender toe (HP:0011308)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Caesarean section (HP:0011410)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Thin ribs (HP:0000883)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Penile hypospadias (HP:0003244)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Retrognathia (HP:0000278)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Narrow face (HP:0000275)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Long face (HP:0000276)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Long face (HP:0000276)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: High palate (HP:0000218)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: High palate (HP:0000218)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MTM1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: High forehead (HP:0000348)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Premature birth (HP:0001622)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Premature birth (HP:0001622)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Gene: MTM1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MTM1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Gene: MT-ND1
Phenotype: Bulbar signs (HP:0002483)
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-ND1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Increased CSF lactate (HP:0002490)
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-ND1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Increased CSF lactate (HP:0002490)
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-ND1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
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-ND1
Phenotype: Bipolar affective disorder (HP:0007302)
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-ND1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Mitochondrial myopathy (HP:0003737)
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-ND1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Stroke-like episode (HP:0002401)
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-ND1
Phenotype: Encephalopathy (HP:0001298)
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-ND1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Stuttering (HP:0025268)
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-ND1
Phenotype: Hypertonia (HP:0001276)
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-ND1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Agenesis of corpus callosum (HP:0001274)
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-ND1
Phenotype: Motor delay (HP:0001270)
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-ND1
Phenotype: Hemiparesis (HP:0001269)
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-ND1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Gait disturbance (HP:0001288)
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-ND1
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Seizure (HP:0001250)
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-ND1
Phenotype: Seizure (HP:0001250)
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-ND1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Ataxia (HP:0001251)
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-ND1
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Ataxia (HP:0001251)
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-ND1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
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-ND1
Phenotype: Hyporeflexia (HP:0001265)
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-ND1
Phenotype: Global developmental delay (HP:0001263)
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-ND1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Spasticity (HP:0001257)
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-ND1
Phenotype: Episodic vomiting (HP:0002572)
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-ND1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Focal-onset seizure (HP:0007359)
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-ND1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
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-ND1
Phenotype: Abnormal renal tubule morphology (HP:0000091)
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-ND1
Phenotype: Proteinuria (HP:0000093)
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-ND1
Phenotype: Hepatic failure (HP:0001399)
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-ND1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
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-ND1
Phenotype: Psychotic mentation (HP:0001345)
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-ND1
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-ND1
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-ND1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
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-ND1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)