Rare – Page 111 – CheckOrphan

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Hyperprolinemia type 2

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Hyperphenilalaninemia due to pterin-4-alpha-carbin

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Hyperphenylalaninemic embryopathy

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Hyperphenylalaninemia due to dehydratase deficiency

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Degenerative motor system disease

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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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Hyperphenylalaninemia with primapterinuria

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