Search Ontology:
Human Disease
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- Term ID
- DOID:0111039
- Synonyms
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- hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
- 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)
- References
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- GARD:13177
- ICD10CM:E72.1
- MIM:613752
- ORDO:88618
- Ontology
- Human Disease ( DOID:0111039 )
- is a type of
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Genes Involved
Zebrafish Models