MEND syndrome (DOID:0111865)
Alliance: disease page
Synonyms: male EBP disorder with neurological defects
Alt IDs: OMIM:300960, ORDO:401973, UMLS_CUI:C4085243
Definition: A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.