label: Hypoparathyroidism-Retardation-Dysmorphism Syndrome
label_lc: hypoparathyroidism-retardation-dysmorphism syndrome
description: "An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay."