| children | - [X]Mitochondrial myopathy, not elsewhere classified 194543007 removed: 2009-01-31
- Auditory neuropathy, optic atrophy syndrome 1222649004
- Autosomal dominant optic atrophy plus syndrome 715374003
- Autosomal dominant progressive external ophthalmoplegia 827115000
- Autosomal recessive ataxia due to ubiquinone deficiency 725394006
- Autosomal recessive optic atrophy type 7 783065004
- Autosomal recessive progressive external ophthalmoplegia 827117008
- Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome 784347002
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Childhood myocerebrohepatopathy spectrum 702366001
- Chronic diarrhea with villous atrophy syndrome 734019006
- Combined oxidative phosphorylation defect type 11 783558004
- Combined oxidative phosphorylation defect type 13 763110007
- Combined oxidative phosphorylation defect type 14 778065005
- Combined oxidative phosphorylation defect type 15 763203009
- Combined oxidative phosphorylation defect type 17 775908005
- Combined oxidative phosphorylation defect type 2 764943000
- Combined oxidative phosphorylation defect type 21 763211004
- Combined oxidative phosphorylation defect type 23 1173036000
- Combined oxidative phosphorylation defect type 24 1222680009
- Combined oxidative phosphorylation defect type 25 1173035001
- Combined oxidative phosphorylation defect type 26 1173034002
- Combined oxidative phosphorylation defect type 27 1172844009
- Combined oxidative phosphorylation defect type 28 1187640000
- Combined oxidative phosphorylation defect type 29 1172843003
- Combined oxidative phosphorylation defect type 30 1172841001
- Combined oxidative phosphorylation defect type 4 766876004
- Combined oxidative phosphorylation defect type 5 724279004
- Combined oxidative phosphorylation defect type 7 763204003
- Combined oxidative phosphorylation defect type 8 733600007
- Combined oxidative phosphorylation defect type 9 763209008
- Combined oxidative phosphorylation deficiency type 20 783178001
- Congenital hyperammonemia, type I 62522004 removed: 2018-07-31
- Cytochrome-c oxidase deficiency 67434000
- Deficiency of mitochondrial complex III 709414007
- Demyelination of central nervous system co-occurrent and due to mitochondrial disease 724784006
- Diabetes-deafness syndrome maternally transmitted 237619009
- Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome 771469002
- Encephalopathy due to mitochondrial and peroxisomal fission defect 1236807002
- Epileptic encephalopathy with global cerebral demyelination 726702005
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 720951008
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004
- Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome 1237349008
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 776416004
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 771513008
- Infantile onset spinocerebellar ataxia 724227000
- Kearns-Sayre syndrome 25792000
- Leber's optic atrophy 58610003
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome 735421004
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome 763366000
- Lipoic acid synthetase deficiency 782744007
- Lipoyl transferase 1 deficiency 782745008
- Liver disease co-occurrent and due to mitochondrial disorder 735732003
- Maternally inherited cardiomyopathy and hearing loss syndrome 724173009
- Maternally inherited mitochondrial dystonia 717054001
- MEHMO syndrome 722037004
- MEPAN syndrome 1236805005
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 771478008
- Mitochondrial metabolism defect 133791000119107
- Mitochondrial myopathy 16851005
- MT-ATP6-related mitochondrial spastic paraplegia 778048001
- Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy 1220598005
- Non-syndromic mitochondrial sensorineural deafness 1187512003
- Ocular anomalies, axonal neuropathy, developmental delay syndrome 1172586007
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- QRSL1-related combined oxidative phosphorylation defect 1197430005
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 773423007
- Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
- WARS2-related combined oxidative phosphorylation defect 1260128008
- Zellweger-like syndrome without peroxisomal anomaly 718880003
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