Rare – Page 385 – CheckOrphan

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Megalocornea mental retardation syndrome

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Coloboma of optic papilla

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Coloboma of optic nerve

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Megaloblastic anemia

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Hip luxation

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Coloboma hair abnormality

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Chromosome 1- monosomy 1p22 p13

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Basal cell carcinoma- multiple

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Hirschsprung disease polydactyly heart disease

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Hirschsprung disease type 2

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