B. Wollenberg

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS; OMIM #617915) is an ultra-rare autosomal dominant disorder caused by predominantly de novo pathogenic variants in CTBP1, encoding a NAD(H)-dependent transcriptional corepressor. We reviewed all HADDTS cases reported from database inceptio...