Conditions / Genetic
MEND syndrome
info · Genetic
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
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.
Signs and symptoms
- Upslanted palpebral fissure
- Anterior polar cataract
- Seizure
- Hypotonia
- Spotty hypopigmentation
- Failure to thrive
- Broad hallux
- Smooth philtrum
- Overlapping toe
- Bulbous nose
Also known as: male EBP disorder with neurological defects