TaoMedAI/RareMedData huggingface dataset:
Gene: NEB
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Talipes (HP:0001883)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NDUFA9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Gene: NDUFA10
Phenotype: Fetal distress (HP:0025116)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFA10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
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: NDUFB3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
Phenotype: Premature birth (HP:0001622)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Gene: NDUFB3
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: NDUFB3
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: NDUFB3
Phenotype: Strabismus (HP:0000486)
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: NDUFB3
Phenotype: Ptosis (HP:0000508)
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: NDUFB3
Phenotype: Optic disc pallor (HP:0000543)
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: NDUFB7
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Gene: NDUFB8
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Patent urachus (HP:0010479)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)
Gene: NDUFB8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (OMIM:618252)