OBO ID: DOID:0111039
Term Name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0111039 )
OTHER hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 613752
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None