TaoMedAI/RareMedData huggingface dataset:
Gene: SLC13A5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Dementia (HP:0000726)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: SLC13A5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: SLC13A5
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA (OMIM:615905)
Gene: SLC13A5
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA (OMIM:615905)
Gene: SLC13A5
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: SLC13A5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: SLC13A5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA (OMIM:615905)
Gene: SLC13A5
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Kohlschütter-Tönz syndrome; Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome (ORPHA:1946)
Gene: SLC13A5
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA (OMIM:615905)
Gene: SLC13A5
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC13A5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CAVIN1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Muscle mounding (HP:0003719)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Ileus (HP:0002595)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Constipation (HP:0002019)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Myalgia (HP:0003326)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Tachycardia (HP:0001649)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Bradycardia (HP:0001662)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: CAVIN1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Gene: GDPD1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDPD1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
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: NDUFAF8
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: NDUFAF8
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: NDUFAF8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
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)
Gene: NDUFAF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Abnormal diffusion weighted cerebral MRI morphology (HP:0032615)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Proximal tubulopathy (HP:0000114)
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: NDUFAF8
Phenotype: Vomiting (HP:0002013)
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: NDUFAF8
Phenotype: Respiratory insufficiency (HP:0002093)
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: NDUFAF8
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
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: NDUFAF8
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Hepatomegaly (HP:0002240)
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: NDUFAF8
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
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: NDUFAF8
Phenotype: Feeding difficulties (HP:0011968)
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: NDUFAF8
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
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: NDUFAF8
Phenotype: Leukoencephalopathy (HP:0002352)
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: NDUFAF8
Phenotype: Nystagmus (HP:0000639)
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: NDUFAF8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Blindness (HP:0000618)
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: NDUFAF8
Phenotype: Hypoglycemia (HP:0001943)
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: NDUFAF8
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
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: NDUFAF8
Phenotype: Lactic acidosis (HP:0003128)
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: NDUFAF8
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Diabetes mellitus (HP:0000819)
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: NDUFAF8
Phenotype: Reduced eye contact (HP:0000817)
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: NDUFAF8
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
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)