TaoMedAI/RareMedData huggingface dataset:
Gene: RTTN
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Severe short stature (HP:0003510)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Mild short stature (HP:0003502)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Sacrococcygeal pilonidal abnormality (HP:0010767)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: 2-5 finger cutaneous syndactyly (HP:0005650)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Thin ribs (HP:0000883)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormal occipital bone morphology (HP:0012294)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Retrognathia (HP:0000278)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormality of the orbital region (HP:0000315)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Microphallus (HP:0030260)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Proptosis (HP:0000520)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
Phenotype: Hydroureter (HP:0000072)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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: NDUFAF3
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)