Rare – Page 435 – CheckOrphan

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Progeria short stature pigmented nevi

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Myopathy- desmin storage

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Optic atrophy polyneuropathy deafness

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Myopathy Hutterite type

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Myopathy mitochondrial cataract

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Optic atrophy opthalmoplegia ptosis deafness myopia

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Dosage-sensitive sex reversal

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Double fingernail of fifth finger

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Oral facial digital syndrome

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Double outlet left ventricle

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