hypoparathyroidism-retardation-dysmorphism syndrome


Also found in: Acronyms.

hypoparathyroidism-retardation-dysmorphism syndrome

An autosomal recessive condition (OMIM:241410) characterised by congenital hypoparathyroidism, growth and mental retardation and seizures, which presents in children of consanguineous parents in the Middle East.

Molecular pathology
Caused by defects of TBCE, which encodes cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.