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ENHypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency (HMAHCHD)
Alias:
Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase
Psychomotor Retardation Due to S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia Due to S-Adenosylhomocysteine Hydrolase Deficiency
Hmahchd
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Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency, also known as hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase, is related to s-adenosylhomocysteine hydrolase deficiency. An important gene associated with Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency is AHCY (Adenosylhomocysteinase). Related phenotypes are hypotonia and global developmental delay
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MALACARDS
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