Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - HRDS - Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures - Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay - Hypoparathyroidism-Retardation-Dysmorphism Syndrome - Sanjad-Sakati Syndrome