ndufaf3 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-999943

Gene Symbol: ndufaf3 Gene Name: NADH:ubiquinone oxidoreductase complex assembly factor 3

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: ndufaf3 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (111 sources): Abnormal CSF lactate concentration, Abnormal brain lactate level by MRS, Abnormal brainstem morphology, Abnormal caudate nucleus morphology, Abnormal cerebral cortex morphology, Abnormal globus pallidus morphology, Abnormal mitochondria in muscle tissue, Abnormal renal tubule morphology, Abnormal saccadic eye movements, Abnormality of eye movement, Abnormality of thalamus morphology, Abnormality of the cardiovascular system, Abnormality of the respiratory system, Acute necrotizing encephalopathy, Anemia, Apnea, Ataxia, Babinski sign, Basal ganglia gliosis, Bilateral ptosis, Blindness, Cardiac conduction abnormality, Central hypoventilation, Cerebellar atrophy, Cerebral edema, Chorea, Coma, Congestive heart failure, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial respiratory chain, Decreased liver function, Developmental regression, Diabetes mellitus, Diffuse white matter abnormalities, Dilated cardiomyopathy, Dyskinesia, Dysphagia, Dystonia, Elevated brain lactate level by MRS, Encephalopathy, Exercise intolerance, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fetal distress, Fluctuations in consciousness, Focal T2 hyperintense brainstem lesion, Generalized hypotonia, Global brain atrophy, Global developmental delay, Growth delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hydronephrosis, Hydroureter, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Hypotonia, Increased CSF lactate, Increased circulating lactate concentration, Increased serum pyruvate, Infantile muscular hypotonia, Intellectual disability, Intrauterine growth retardation, Involuntary movements, Lactic acidosis, Lethargy, Leukodystrophy, Leukoencephalopathy, Limited extraocular movements, Macrocephaly, Mental deterioration, Microcephaly, Mitochondrial myopathy, Mitral regurgitation, Muscle weakness, Myoclonus, Neurodevelopmental delay, Neuronal loss in basal ganglia, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Optic neuropathy, Paroxysmal involuntary eye movements, Peripheral neuropathy, Poor eye contact, Poor head control, Poor suck, Progressive macrocephaly, Proximal tubulopathy, Ptosis, Pulmonic stenosis, Renal agenesis, Renal dysplasia, Renal tubular acidosis, Respiratory distress, Respiratory insufficiency, Retinopathy, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment, Vomiting [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (111 sources): Abnormal CSF lactate concentration, Abnormal brain lactate level by MRS, Abnormal brainstem morphology, Abnormal caudate nucleus morphology, Abnormal cerebral cortex morphology, Abnormal globus pallidus morphology, Abnormal mitochondria in muscle tissue, Abnormal renal tubule morphology, Abnormal saccadic eye movements, Abnormality of eye movement, [+]

View all ortholog results at Monarch