OBO ID: DOID:0111039 |
Term Name: | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | Search Ontology: | |
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Definition: | A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (2) | ||
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Ontology: | Human Disease ( DOID:0111039 ) |
OTHER hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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