hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000351
disorder of methionine catabolism
is_a
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
exact
SPBC8D2.18c