Term Name:	MEND syndrome
Synonyms:	male EBP disorder with neurological defects
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.
Ontology:	Human Disease [DOID:0111865]   ( DOID:0111865 )