TaoMedAI/RareMedData huggingface dataset:
Gene: MICOS13
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Hypothermia (HP:0002045)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Progressive (HP:0003676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Nystagmus (HP:0000639)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Chorioretinal hyperpigmentation (HP:0040031)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Persistent head lag (HP:0032988)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Visual impairment (HP:0000505)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: CPT1C
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Seizure (HP:0001250)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Adult onset (HP:0003581)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Dementia (HP:0000726)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Claw toe deformity (HP:0034397)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Prolonged central motor conduction time (HP:0034399)
Associated disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Gene: CPT1C
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: CPT1C
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG73; Autosomal dominant spastic paraplegia type 73 (ORPHA:444099)
Gene: NLRP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 (OMIM:620333)
Gene: NLRP5
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 (OMIM:620333)
Gene: NLRP5
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 (OMIM:620333)
Gene: GIPC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Gene: GIPC3
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Gene: GIPC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Gene: GIPC3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Gene: GIPC3
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
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: NDUFA11
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Gene: NDUFA11
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: NDUFA11
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: NDUFA11
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)
Gene: NDUFA11
Phenotype: Microcephaly (HP:0000252)
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: NDUFA11
Phenotype: Failure to thrive (HP:0001508)
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: NDUFA11
Phenotype: Intrauterine growth retardation (HP:0001511)
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: NDUFA11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
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: NDUFA11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)