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ENHyperprolinemia, Type Ii (HYRPRO2)
Alias:
Hyperprolinemia Type 2
Hyperprolinemia Type Ii
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyrpro2
Hpii
Deficiency of Pyrroline-5-Carboxylate Reductase
Hyperprolinemia 2
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Hyperprolinemia, Type Ii, also known as hyperprolinemia type 2, is related to hyperprolinemia, type i and hyperprolinemia. An important gene associated with Hyperprolinemia, Type Ii is ALDH4A1 (Aldehyde Dehydrogenase 4 Family Member A1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizure
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MALACARDS
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