label: Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome
label_lc: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
description: An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.