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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Adenine Nucleotide Translocator Deficiency
adult-onset ataxia and polyneuropathy
arthrogryposis multiplex congenita +
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
atrophic muscular disease +
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
carbamoyl phosphate synthetase I deficiency disease
Carey-Fineman-Ziter syndrome +
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Childhood Myocerebrohepatopathy Spectrum
chronic progressive external ophthalmoplegia +
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
congenital fibrosis of the extraocular muscles +
Congenital Myopathy with Neuropathy and Deafness
Congenital Universal Muscular Hypoplasia of Krabbe
Craniomandibular Disorders +
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
distal arthrogryposis type 5
Early-Onset Myopathy with Fatal Cardiomyopathy
Ehlers-Danlos syndrome kyphoscoliotic type 2
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
eosinophilia-myalgia syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
ethylmalonic encephalopathy
exophthalmic ophthalmoplegia
External Ophthalmoplegia and Myopia
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
familial periodic paralysis +
Familial Static Ophthalmoplegia
Fingerprint Body Myopathy
Gamstorp-Wohlfart syndrome
Hamano Tsukamoto Syndrome
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Hypermetabolism due to Defect in Mitochondria
Hypertrophia Musculorum Vera
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
Internal Anal Sphincter Myopathy
internuclear ophthalmoplegia
Kocher-Debre-Semelaigne Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Miles-Carpenter syndrome +
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
mitochondrial DNA depletion syndrome 11
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
Motor Neuron Disease with Dementia and Ophthalmoplegia
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Giant Abnormal Mitochondria
Myopathy with Lactic Acidosis, Hereditary
Myopathy, Cataract, Hypogonadism Syndrome
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
neutral lipid storage disease +
Noninsulin-Dependent Diabetes Mellitus with Deafness
Ocular Myopathy with Curare Sensitivity
Ophthalmoplegia Totalis with Ptosis and Miosis
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Ophthalmoplegia, Familial Total, with Iris Transillumination
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Parkinson's Disease, Mitochondrial
Pectoralis Muscle, Absence of
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Progressive External Ophthalmoplegia with Hypogonadism
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive supranuclear palsy +
proximal myopathy and ophthalmoplegia
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Schimke X-Linked Mental Retardation Syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
Spinocerebellar Ataxia with Epilepsy
Succinate-Coa Ligase Deficiency +
systemic primary carnitine deficiency disease
Tel Hashomer Camptodactyly Syndrome
Treft Sanborn Carey Syndrome
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
very long chain acyl-CoA dehydrogenase deficiency
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