DISEASES

Disease-gene associations mined from literature

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