Details of NDUFS3 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| NDUFS3 | --- | O75489 | NDUS3_HUMAN | 4722 | --- | ENSG00000213619 | --- |
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal hair quantity, Abnormal muscle tone, Abnormal pattern of respiration, Abnormality of acid-base homeostasis, Abnormality of body weight, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skin adnexa, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrospinal fluid, Abnormality of the eye, Abnormality of the fundus, Abnormality of the glial cells, Abnormality of the hair, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the retina, Acidosis, Age of onset, All, Ataxia, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cognitive impairment, Decreased body weight, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Functional respiratory abnormality, Gliosis, Growth abnormality, Heterogeneous, Hyperreflexia, Hypertonia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Ophthalmoparesis, Ophthalmoplegia, Optic atrophy, Pace of progression, Phenotypic abnormality, Pigmentary retinopathy, Progressive disorder, Respiratory insufficiency, Seizures, Spasticity.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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