TaoMedAI/RareMedData huggingface dataset:
Gene: MT-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
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-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Spasticity (HP:0001257)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Atrophy/Degeneration involving the caudate nucleus (HP:0007374)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
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-ATP6
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-ATP6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Myoclonus (HP:0001336)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
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-ATP6
Phenotype: Floppy infant (HP:0008947)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Dysphagia (HP:0002015)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
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-ATP6
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-ATP6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Rigidity (HP:0002063)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
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-ATP6
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-ATP6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Babinski sign (HP:0003487)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Babinski sign (HP:0003487)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Babinski sign (HP:0003487)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
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-ATP6
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-ATP6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
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-ATP6
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Postural tremor (HP:0002174)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
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-ATP6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Reduced contrast sensitivity (HP:0032036)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Frequent falls (HP:0002359)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
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-ATP6
Phenotype: Headache (HP:0002315)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
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-ATP6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
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-ATP6
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Sensorimotor neuropathy (HP:0007141)
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-ATP6
Phenotype: Corticospinal tract atrophy (HP:0007117)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Corticospinal tract atrophy (HP:0007117)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
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-ATP6
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
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-ATP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Nystagmus (HP:0000639)
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-ATP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Optic atrophy (HP:0000648)
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-ATP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)