Table 1.

Main clinical features and genetic findings in our cohort of 10 CTNNB1 patients.

PT ID	1	2	3	4	5	6	7	8	9	10
Age (y)	6	6	23	15.5	4.5	5.5	10.5	10	9	10.5
Eye abnormalities	+	+	+	+	+	+		+	+	+
Muscle tone abnormalities	+	+	+	+	+	+	+	+	+	+
Microcephaly	+			+	+		+	+	+	+
MRI anomalies	+	+							+
Autism spectrum disorder							+
Speech difficulties	+	+	+	+	+	+	+	+	+	+
Intellectual Disability/ developmental delay	+	+	+	+	+	+	+	+	+	+
Motor milestone delay	+	+	+	+	+	+	+	+	+	+
Abnormal BMI		+		+	+				+
Low weight at birth	+
Perinatal asphyxia/ respiratory distress				+	+			+	+
CTNNB1 [NM_001904.3] variants	c.680dup, p.Leu299ThrfsTer5	c.1759C>T, p.Arg587Ter	c.1759C>T, p.Arg587Ter	c.1081+1_1082-1_2346+?del	c.1420C>T, p.Arg474Ter	c.998dupA, p.Tyr333Ter	c.975delA, p.Asn326IlefsTer2	c.1874del, p.Lys625fs	c.976_979delAATA, p.Asn326Ter	c.1759C>T, p.Arg587Ter
Variant type	frameshift	nonsense	nonsense	deletion	nonsense	nonsense	frameshift	frameshift	nonsense	nonsense
Exon involved	5	11	11	exons 9 to 16 (deletion)	9	7	7	12	7	11

BMI = body mass index; MRI = Magnetic Resonance Imaging; Pt = patient; y = years. “+” can be explained as “presence” or “occurence”.