|
221
|
|
|
NADH:ubiquinone oxidoreductase subunit B3 |
B12, CI-B12, MC1DN25 |
Developmental delay, Diabetes mellitus, Epileptic encephalopathy, Hearing loss, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial myopathy, Multiple congenital anomalies, Myopathy, Nystagmus, Ptosis, StrabismusView all (2 more) |
|
222
|
|
|
NADH:ubiquinone oxidoreductase subunit B6 |
B17, CI |
|
|
223
|
|
|
NADH:ubiquinone oxidoreductase subunit B7 |
B18, CI-B18, MC1DN39 |
|
|
224
|
|
|
NADH:ubiquinone oxidoreductase subunit B8 |
ASHI, CI-ASHI, MC1DN32 |
Anemia, Arsenic encephalopathy, Cardiomyopathy, Congestive heart failure, Dermatologic disorders, Developmental delay, Developmental regression, Dyskinetic syndrome, Dysphagia, Hypertrichosis, Hypertrophic cardiomyopathy, Leigh syndrome with cardiomyopathy, Leukodystrophy, Mental retardation, Mitochondrial complex deficiency, Nervous system diseases, Nystagmus, Optic atrophy, Pulmonary stenosis, Renal agenesis, Renal dysplasia, Respiratory failure, Retinal diseasesView all (8 more) |
|
225
|
|
|
NADH:ubiquinone oxidoreductase subunit B9 |
B22, CI-B22, LYRM3, MC1DN24, UQOR22 |
Developmental delay, Diabetes mellitus, Epileptic encephalopathy, Hearing loss, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial myopathy, Nystagmus, Ptosis, Strabismus, Vascular diseasesView all (1 more) |
|
226
|
|
|
NADH:ubiquinone oxidoreductase subunit B10 |
MC1DN35, PDSW |
Developmental delay, Diabetes mellitus, Epileptic encephalopathy, Hearing loss, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial myopathy, Nystagmus, Ptosis, Strabismus |
|
227
|
|
|
NADH:ubiquinone oxidoreductase core subunit S1 |
CI-75Kd, CI-75k, MC1DN5, PRO1304 |
Anemia, Brain atrophy, Cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Dysphagia, Epileptic encephalopathy, Frontotemporal dementia, Gastric cancer, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Melas syndrome, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial encephalopathy, Mitochondrial myopathy, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Schizophrenia, Stomach neoplasms, Strabismus, Ventricular septal defectView all (25 more) |
|
228
|
|
|
NADH:ubiquinone oxidoreductase core subunit S2 |
CI-49, LHONAR2, MC1DN6 |
Anemia, Wolff-parkinson-white syndrome, Brain atrophy, Cardiomyopathy, Cerebellar ataxia, Cerebral atrophy, Congestive heart failure, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Dyskinetic syndrome, Dysphagia, Epileptic encephalopathy, Hearing loss, Hereditary leber optic atrophy, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leber hereditary optic neuropathy, Leigh syndrome, Leigh syndrome with cardiomyopathy, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mood swings, Myocardial diseases, Myopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Pulmonary stenosis, Renal agenesis, Renal dysplasia, Respiratory failure, Retinal diseases, Retinal telangiectasia, Retinitis pigmentosa, Strabismus, Ventricular preexcitation, Ventricular septal defectView all (34 more) |
|
229
|
|
|
NADH:ubiquinone oxidoreductase core subunit S3 |
CI-30, MC1DN8 |
Acquired kyphoscoliosis, Anemia, Breast cancer, Mammary neoplasms, Breast carcinoma, Cerebellar ataxia, Congenital kyphoscoliosis, Developmental delay, Diabetes mellitus, Dysarthria, Dysphagia, Encephalopathy, Epileptic encephalopathy, Hearing loss, Hypertension, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Marfan syndrome, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Pancreatitis, Ptosis, Retinitis pigmentosa, Strabismus, Ventricular septal defectView all (24 more) |
|
230
|
|
|
NADH:ubiquinone oxidoreductase core subunit V1 |
CI-51K, CI51KD, MC1DN4, UQOR1 |
Anemia, Arthritis, Bipolar disorder, Brain atrophy, Cerebellar ataxia, Cerebral atrophy, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Epileptic encephalopathy, Gastric cancer, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Mental depression, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Osteoarthrosis deformans, Ptosis, Retinitis pigmentosa, Schizophrenia, Stomach neoplasms, Strabismus, Ventricular septal defectView all (24 more) |
