Human genes for mevalonic aciduria
Mevalonic aciduria [DOID:0050452]
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
Synonyms: mevalonic aciduria, DOID:0050452, mevalonic acidurias, Mevalonate Kinase Deficiency, Mevalonate Kinase Deficiencies ...
Linkouts: OMIM