Table 6.

The main features of the 14 identified cases with CTBP1 variants

Case	Dysarthria	Muscle weakness	HADDTS syndrome (hypotonia, ataxia, developmental delay, and tooth enamel defects)	Cerebellar atrophy	Reference
1	+	+	+	+	Beck et al. [10]
2	+	+	+	-	Beck et al. [10]
3	+	+	+	+	Beck et al. [10]
4	+	+	+	-	Beck et al. [10]
5	-	-	Not described tooth enamel defects	Not described	Beck et al. [12]
6	+	+	+	+ Cerebellar and cerebral atrophy	Beck et al. [12]
7	Not described	Not described	+	-	Beck et al. [12]
8	Not described	Not described	Ataxia not described	+	Beck et al. [12]
9	Not described	Not described	+ Axial hypotonia	+ Mild Dandy-Walker cyst	Beck et al. [12]
10	+	Not described	Not described tooth enamel defects	+ Cerebellum was underdeveloped	Beck et al. [12]
11	+	+	+	+	Beck et al. [12]
12	-	+	No tooth enamel defects or ataxia described	+ Mild cerebellar and brainstem atrophy	Sommerville et al. [11]
13	+	+ Neck muscle weakness	+	+ Prominent cerebellar foliae	Bhatia et al. [13]
14	+	-	Ataxia not described	Not performed	Khamirani et al. [14]