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GTR Home > Conditions/Phenotypes > MEND syndrome

MEND syndrome

Synonyms
MALE EBP DISORDER WITH NEUROLOGIC DEFECTS
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Male EBP disorder with neurologic defects (MEND) is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDPX2, CHO2, CPX, CPXD, MEND, EBP
    Summary: EBP cholestenol delta-isomerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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