Adenine Nucleotide Translocator Deficiency
Athabaskan brainstem dysgenesis
CANOMAD syndrome
Combined Oxidative Phosphorylation Deficiency 3
Diffuse Lewy Body Disease with Gaze Palsy
Duane Retraction Syndrome
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External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
Fibrosis Of Extraocular Muscles, Congenital, 2
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
Fibrosis of Extraocular Muscles, Congenital, 3B
Fibrosis of Extraocular Muscles, Congenital, 3C
Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence
Hamano Tsukamoto syndrome
Inclusion Body Myopathy 3, Autosomal Dominant
Inclusion body myopathy, autosomal dominant
Joubert syndrome 3
Joubert syndrome 5
Joubert syndrome 6
Joubert Syndrome 7
Levator-Medial Rectus Synkinesis
Mental Retardation, X-Linked, Syndromic, Christianson Type
Miller Fisher Syndrome
Minicore Myopathy with External Ophthalmoplegia
Mitochondrial cytopathy
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
Mitochondrial DNA Depletion Syndrome 8A
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive
Mitochondrial Encephalomyopathies
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Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
Mitochondrial Myopathy with Diabetes
Mitochondrial myopathy with lactic acidosis
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
Motor Neuron Disease with Dementia and Ophthalmoplegia
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Myopathy, Mitochondrial, Lethal Infantile
Neuropathy ataxia and retinis pigmentosa
Nystagmus, Pathologic
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Ocular Myopathy with Curare Sensitivity
Oculomelic amyoplasia
Oculomotor Nerve Diseases
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Oculootoradial syndrome
Ophthalmoplegia
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Ophthalmoplegia Totalis with Ptosis and Miosis
Ophthalmoplegia, Chronic Progressive External
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A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Ophthalmoplegia, External, and Myopia
Ophthalmoplegia, Familial Static
Ophthalmoplegia, Familial Total, with Iris Transillumination
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
Ophthalmoplegic Migraine
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Opsoclonus-Myoclonus Syndrome
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Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
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Progressive External Ophthalmoplegia With Hypogonadism
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
Schimke X-linked mental retardation syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Setting-Sun Phenomenon, Familial Benign
Strabismus
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Supranuclear Palsy, Progressive
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Tolosa-Hunt Syndrome
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Treft Sanborn Carey syndrome
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Tukel syndrome
Wieacker syndrome
