TaoMedAI/RareMedData huggingface dataset:
Gene: WARS2
Phenotype: Poor head control (HP:0002421)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Seizure (HP:0001250)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Tremor (HP:0001337)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Dysmetria (HP:0001310)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Floppy infant (HP:0008947)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Stooped posture (HP:0025403)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Chorea (HP:0002072)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Difficulty standing (HP:0003698)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Action tremor (HP:0002345)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Athetosis (HP:0002305)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Athetosis (HP:0002305)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Amblyopia (HP:0000646)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Anxiety (HP:0000739)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Psychosis (HP:0000709)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: High palate (HP:0000218)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Growth delay (HP:0001510)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Premature birth (HP:0001622)
Associated disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Gene: WARS2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: WARS2
Phenotype: Exotropia (HP:0000577)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Gene: WARS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Gene: MICU1
Phenotype: Hypervalinemia (HP:0010910)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Gene: MICU1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Seizure (HP:0001250)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Gene: MICU1
Phenotype: Ataxia (HP:0001251)
Associated disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)