Summary Literature (0)

DOID:0111039 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Disease Ontology 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.

Synonyms: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency, psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency,

Echinobase Genes : ahcy


OMIM:

MIM:613752 - hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee