Rare – Page 250 – CheckOrphan

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Proteus syndrome

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Prothrombin deficiency

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Absent abdominal musculature with microphthalmia and joint laxity

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Absent corpus callosum cataract immunodeficiency

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Absent duct of Santorini

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Absent patella

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Absence of Tibia

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Absence of tibia with polydactyly

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Metaphyseal acroscyphodysplasia

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Metaphyseal chondrodysplasia with cone-shaped epiphyses- normal hair- and normal hands

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