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hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Summary
- Synonym
-
- 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.
- Super Class
- hypermethioninemia
External Links
- Disease Ontology
- DOID:0111039
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012110 | Hypoplasia of the pons |
| HP:0012448 | Delayed myelination |
| HP:0012704 | Widened subarachnoid space |
| HP:0001252 | Hypotonia |
| HP:0003593 | Infantile onset |
| HP:0001270 | Motor delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0003557 | Increased variability in muscle fiber diameter |
