Phenotypes for disease #05534 (mitochondrial (mitochondrial disorder))

65 entries on 1 page. Showing entries 1 - 65.
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AscendingPhenotype ID     
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Phenotype details     
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Phenotype/Onset     
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Individual ID     
0000157618 suspected mitochondrial disorder DLDD suspected mitochondrial disorder Familial, autosomal recessive - - - - Johan den Dunnen 00209013
0000157636 suspected mitochondrial disorder - suspected mitochondrial disorder Maternal, mitochondrial - - - - Johan den Dunnen 00209030
0000157646 suspected mitochondrial disorder LS suspected mitochondrial disorder Maternal, mitochondrial - - - - Johan den Dunnen 00209040
0000157648 suspected mitochondrial disorder LS Leigh syndrome Maternal, mitochondrial - - - - Johan den Dunnen 00209042
0000228720 - - - Maternal, mitochondrial - - - - Helen Latsoudis 00301614
0000237058 - Mitochondrial disorder neonatal hypertrophic cardiomyopathy encephalopathy severe lactic acidosis Isolated complex IV deficiency Familial, autosomal recessive - - - - Liesbeth T. Wintjes 00311803
0000246573 - - Severe intellectual disability, brain imaging abnormalities (pachygyria, polymicrogyria, white matter abnormalities, in retrospect signs of stroke on brain CT), spastic tetraparesis, oral dystonia and dystonia of hands and feet, epilepsy, episodic headaches with nausea and emesis, adverse drug reactions, feeding difficulties, secondary microcephaly in childhood, low body weight, drooling, severe progressive neuromuscular scoliosis and congenital hip dysplasia, dental and gingival abnormalities, facial dysmorphisms Maternal, mitochondrial - - - - Elke de Boer 00328346
0000343286 pyruvate dehydrogenase complex deficiency - pshycomotor delay, microcephaly, hypoacusis, Leigh syndrome Familial, autosomal recessive - - <01y - Johan den Dunnen 00454645
0000343287 slowly progressive mitochondrial disease - see papr; ..., cerebellar ataxia, optic atrophy, hypoacusis, peripheral neuropathy, intellectual disability Familial, X-linked recessive 39y - 01y - Johan den Dunnen 00454650
0000343324 complex I deficiency - pshycomotor delay, encephalopathy Familial, autosomal recessive - - 0y - Daniele Ghezzi 00454696
0000343325 complex I deficiency - psycomotor regression, dystonia, leukoencephalopathy Familial, autosomal recessive - - <1y - Daniele Ghezzi 00454697
0000343326 complex II deficiency - myopathy Familial, X-linked - - 20y - Daniele Ghezzi 00454698
0000343327 complex III deficiency - psycomotor regression, dystonia, leukoencephalopathy Familial, autosomal recessive - - 4y - Daniele Ghezzi 00454699
0000343328 complex III deficiency - leukoencephalopathy Familial, autosomal recessive - - 6y - Daniele Ghezzi 00454700
0000343329 complex IV deficiency - pshycomotor delay, respiratory distress, microcephaly, epilepsy, pontocerebellar hypoplasia Familial, autosomal recessive - - <0y - Daniele Ghezzi 00454701
0000343330 complex IV deficiency - ataxia, neuropathy, leukoencephalopathy Familial, autosomal recessive - - 37y - Daniele Ghezzi 00454702
0000343331 mtDNA depletion - pshycomotor delay, respiratory distress, epilepsy, leukoencephalopathy Familial, autosomal recessive - - <0y - Daniele Ghezzi 00454703
0000343332 multiple RC complex defect - cardiomyopathy Familial, autosomal recessive - - 0y - Daniele Ghezzi 00454704
0000343333 multiple RC complex defect - cardiomyopathy Familial, autosomal recessive - - <1y - Daniele Ghezzi 00454705
0000343334 multiple RC complex defect - cardiomyopathy Familial, autosomal recessive - - 0y - Daniele Ghezzi 00454706
0000343335 multiple RC complex defect - pshycomotor delay, dystonia, Leigh syndrome Familial, autosomal recessive - - 3y - Daniele Ghezzi 00454707
0000343336 pyruvate dehydrogenase complex deficiency - Leigh syndrome Familial, autosomal recessive - - <1y - Daniele Ghezzi 00454708
0000343337 pyruvate dehydrogenase complex deficiency - pshycomotor delay, hypotonia Familial, X-linked dominant - - <1y - Daniele Ghezzi 00454709
0000343338 - - hypertrophic cardiomyopathy Familial, autosomal recessive - - 2y - Daniele Ghezzi 00454710
0000343339 - - myopathy Familial, autosomal dominant - - 30y - Daniele Ghezzi 00454711
0000343340 multiple RC complex defect - progressive external ophtalmoparesis Unknown - - 38y - Daniele Ghezzi 00454712
0000343341 pyruvate dehydrogenase complex deficiency - pshycomotor delay, epileptic encephalopathy Unknown - - <6m - Daniele Ghezzi 00454713
0000343342 multiple RC complex defect - pshycomotor delay, epilepsy, leukoencephalopathy Unknown - - <1y - Daniele Ghezzi 00454714
0000343343 - - psycomotor delay, intellectual disability, ataxia Unknown - - 5y - Daniele Ghezzi 00454715
0000343344 complex IV deficiency - pshycomotor delay, myopathy Unknown - - 0y - Daniele Ghezzi 00454716
0000343345 complex IV deficiency - pshycomotor delay, cerebellar signs Unknown - - <6m - Daniele Ghezzi 00454717
0000343346 multiple RC complex defect - pyramidal signs, intellectual disability, leukoencephalopathy Familial, autosomal recessive - - <0y - Daniele Ghezzi 00454718
0000343347 complex IV deficiency - pshycomotor delay, peripheral neuropathy, cerebellar signs, leukoencephalopathy Familial, autosomal recessive - - 1y - Daniele Ghezzi 00454719
0000343348 pyruvate dehydrogenase complex deficiency - psycomotor regression, diabetes, intellectual disability, leukoencephalopathy Familial, autosomal recessive - - 1y6m - Daniele Ghezzi 00454720
0000343349 multiple RC complex defect - pshycomotor delay, epilepsy Familial, autosomal dominant - - <1y - Daniele Ghezzi 00454721
0000343350 mtDNA depletion - respiratory distress, hypotonia Unknown - - <0y - Daniele Ghezzi 00454722
0000343351 - - psycomotor regression, leukoencephalopathy Unknown - - 1y - Daniele Ghezzi 00454723
0000343352 pyruvate dehydrogenase complex deficiency - pshycomotor delay, dystonia, Leigh syndrome Unknown - - 0y - Daniele Ghezzi 00454724
0000343353 multiple RC complex defect - cardiomyopathy, renal dysfunction Unknown - - <0y - Daniele Ghezzi 00454725
0000360951 mitochondrial disease - details not specified; no correlation clinical diagnosis with genetic diagnosis Familial, autosomal dominant 17y - - - Johan den Dunnen 00476277
0000360952 mitochondrial disease - details not specified; no correlation clinical diagnosis with genetic diagnosis Familial, autosomal dominant 46y - - - Johan den Dunnen 00476278
0000360953 mitochondrial disease - details not specified; ncorrelation clinical diagnosis with genetic diagnosis Familial, autosomal recessive 40y - - - Johan den Dunnen 00476279
0000360954 mitochondrial disease - details not specified; ncorrelation clinical diagnosis with genetic diagnosis Familial, autosomal recessive 8y - - - Johan den Dunnen 00476280
0000360955 mitochondrial disease - details not specified; ncorrelation clinical diagnosis with genetic diagnosis Familial, autosomal recessive 41y - - - Johan den Dunnen 00476281
0000361368 mitochondrial disease MTDPS2 see paper; ..., no cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 27y - 15y - Johan den Dunnen 00476694
0000361369 mitochondrial disease MTDPS2 see paper; ..., no cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 17y - 13y - Johan den Dunnen 00476695
0000361370 mitochondrial disease PEOB1 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 17y - 5y - Johan den Dunnen 00476696
0000361371 mitochondrial disease PEOB1 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 15y - 6y - Johan den Dunnen 00476697
0000361372 mitochondrial disease COXPD12 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; ragged red fibers; mitochondrial myopathy; cranial MRI T2-weighted hyperintensities in dentate nucleus, thalamus, and periventricular deep white matter Familial, autosomal recessive 3y - 1d - Johan den Dunnen 00476698
0000361373 mitochondrial disease COXPD8 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; no ragged red fibers; mild myopathy; cranial MRI T2-weighted hyperintensities in deep cerebral white matter Familial, autosomal recessive 9y - 0,3y - Johan den Dunnen 00476699
0000361374 mitochondrial disease MC1DN17 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; normal creatine kinase level; no ragged red fibers; cranial MRI decreased tissue volume in the putamen and caudate nucleus volume and pathological signal changes Familial, autosomal recessive 16y - 4y - Johan den Dunnen 00476700
0000361375 mitochondrial disease ECHS1D see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; normal creatine kinase level; cranial MRI T2-weighted hyperintensities in the putamen and caudate nucleus Familial, autosomal recessive 12y - 0.3y - Johan den Dunnen 00476701
0000361376 mitochondrial disease ECHS1D see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; normal creatine kinase level; cranial MRI T2-weighted hyperintensities in the putamen and caudate nucleus Familial, autosomal recessive 10y - 0.3y - Johan den Dunnen 00476702
0000361377 mitochondrial disease SCOTD see paper; ..., no cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; no ragged red fibers; cranial MRI cortical ischemic lesions and cerebellar atrophy Familial, autosomal recessive 2y - 1y - Johan den Dunnen 00476703
0000361378 mitochondrial disease MTDPS13 see paper; ..., cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; no ragged red fibers; mitochondrial myopathy; cranial MRI encephalopathic lesions involving white matter, deep gray nuclei, and brainstem Familial, autosomal recessive 8y - 1y - Johan den Dunnen 00476704
0000361379 mitochondrial disease COXPD37 see paper; ..., cardiomyopathy; gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; urine organic acid analysis mitochondrial disease-related excretion; no ragged red fibers; cranial MRI T2W sagittal seq, atrophy of the cerebellum, brainstem, and corpus callosum, T2W hyperintensities periventricular deep white matter Familial, autosomal recessive 1y - 1d - Johan den Dunnen 00476705
0000361380 mitochondrial disease - see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; mitochondrial myopathy; cranial MRI T2W hyperintense in the bilateral caudate nucleus, subthalamic nucleus, cerebellar hemisphere Maternal, mitochondrial 11y - 6y - Johan den Dunnen 00476706
0000361381 mitochondrial disease - see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; mild myopathy; cranial MRI T2-weighted hyperintensities in basal ganglia Maternal, mitochondrial 13y - 4y - Johan den Dunnen 00476707
0000361382 mitochondrial disease - see paper; ..., cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI T2-weighted hyperintensities in periventricular deep white matter. Unknown 9y - 8y - Johan den Dunnen 00476708
0000361383 mitochondrial disease LGMDR1 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 19y - 12y - Johan den Dunnen 00476709
0000361384 mitochondrial disease LGMDR1 see paper; ..., no cardiomyopathy; gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 16y - 13y - Johan den Dunnen 00476710
0000361385 mitochondrial disease LGMDR1 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; cranial MRI normal Familial, autosomal recessive 19y - 6y - Johan den Dunnen 00476711
0000361386 mitochondrial disease LGMDR2 see paper; ..., cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; mitochondrial myopathy; cranial MRI normal Familial, autosomal recessive 42y - 22y - Johan den Dunnen 00476712
0000361387 mitochondrial disease LGMDR7 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; mild myopathy; cranial MRI normal Familial, autosomal recessive 35y - 6y - Johan den Dunnen 00476713
0000361388 mitochondrial disease LGMDR7 see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; elevated creatine kinase level; no ragged red fibers; mild myopathy; cranial MRI normal Familial, autosomal recessive 21y - 6y - Johan den Dunnen 00476714
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