TaoMedAI/RareMedData huggingface dataset:
Gene: SLC30A10
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Dysarthria (HP:0001260)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Copper accumulation in liver (HP:0025321)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Dystonia (HP:0001332)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Dystonia (HP:0001332)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Parkinsonism (HP:0001300)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Decreased liver function (HP:0001410)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Bradykinesia (HP:0002067)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Rigidity (HP:0002063)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Rigidity (HP:0002063)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Steppage gait (HP:0003376)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Postural instability (HP:0002172)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Postural instability (HP:0002172)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Hypermanganesemia (HP:0032097)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Action tremor (HP:0002345)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Polycythemia (HP:0001901)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Polycythemia (HP:0001901)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Jaundice (HP:0000952)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Abnormal transferrin saturation (HP:0040135)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SOX6
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Food allergy (HP:0500093)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Dysgraphia (HP:0010526)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Infantile onset (HP:0003593)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Hirsutism (HP:0001007)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Inverted nipples (HP:0003186)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Precocious puberty (HP:0000826)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Hooded eyelid (HP:0030820)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Oxycephaly (HP:0000263)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Long face (HP:0000276)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Prominent occiput (HP:0000269)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: High palate (HP:0000218)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Diastasis recti (HP:0001540)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Low-set ears (HP:0000369)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Narrow forehead (HP:0000341)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: High forehead (HP:0000348)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Micrognathia (HP:0000347)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Triangular face (HP:0000325)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Macrotia (HP:0000400)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Prominent nose (HP:0000448)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Osteochondroma (HP:0030431)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: SOX6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Poor speech (HP:0002465)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
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: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Inability to walk (HP:0002540)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Absent speech (HP:0001344)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Rigidity (HP:0002063)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Athetosis (HP:0002305)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
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: FOXRED1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
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: FOXRED1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)