MEND syndrome

Term ID

DOID:0111865

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. (2)

References

• OMIM:300960
• ORDO:401973
• UMLS_CUI:C4085243

Ontology

Human Disease   ( DOID:0111865 )