Term Name:	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
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.
Ontology:	Human Disease [DOID:0111039]   ( DOID:0111039 )