Rare – Page 112 – CheckOrphan

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Hyperphenylalaninemia due to dehydratase deficiency

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Degenerative motor system disease

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Hyperphenylalaninemia with primapterinuria

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Urofacial syndrome

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Urogenital adysplasia

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Deafness- neurosensory- autosomal recessive 47

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Deafness- X-linked- DFN

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FACES syndrome

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Urticaria pigmentosa

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Usher syndrome

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