Rare – Page 228 – CheckOrphan

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Barth syndrome

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Paramyotonia congenita

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Basal cell nevus anodontia abnormal bone mineralization

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Chromosome 1- monosomy 1p

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Hyperimmunoglobulin E – reccurrent infection syndrome

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Paraneoplastic Neurologic Disorders

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Hyperimidodipeptiduria

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Chromosome 1- duplication 1p21 p32

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Hip subluxation

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Coloboma of macula

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