TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFA6
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: NDUFA6
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Mutism (HP:0002300)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Motor regression (HP:0033044)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
Phenotype: Sparse hair (HP:0008070)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA6
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: NDUFA6
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: NDUFA6
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: NDUFA6
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: NDUFA6
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: NDUFA6
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (OMIM:618253)
Gene: NDUFA8
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Tetraplegia (HP:0002445)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Bradycardia (HP:0001662)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NDUFA8
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 (OMIM:619272)
Gene: NEB
Phenotype: Hand clenching (HP:0001188)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Motor delay (HP:0001270)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Areflexia (HP:0001284)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Areflexia (HP:0001284)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)