Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Hsd10 Mitochondrial Disease |
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Restlessness, Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Agitation |
OMIM:300438 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Elevated hepatic transaminase, Decreased activity of mitochondrial ATP synthase complex, Small fo... |
OMIM:610498 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number, Slender build |
ORPHA:352470 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:99013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:615181 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Frontotemporal Dementia With Motor Neuron Disease |
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Disinhibition, Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Poretti-Boltshauser Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number, Dysphagia |
ORPHA:352447 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Aggressi... |
ORPHA:17 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling, Dysphagia |
ORPHA:397744 |
Barth Syndrome |
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Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Fumarase Deficiency |
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Decreased fumarate hydratase activity, Intrahepatic cholestasis, Agenesis of corpus callosum, Hep... |
OMIM:606812 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
Crome Syndrome |
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Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel... |
OMIM:613150 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy |
OMIM:602541 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number, Diabetes mellitus |
ORPHA:263297 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Neonatal Adrenoleukodystrophy |
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Wide anterior fontanel, Abnormality of the liver |
ORPHA:44 |
Zellweger Syndrome |
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Hepatomegaly, Failure to thrive, Death in infancy, Cryptorchidism, Jaundice, Wide anterior fontan... |
ORPHA:912 |
Infantile Refsum Disease |
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Hepatomegaly, Failure to thrive |
ORPHA:772 |
Peroxisome Biogenesis Disorder 14B |
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Hydrocele testis |
OMIM:614920 |