Table 2.

Clinical characteristics of the patients with ADNP mutations

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Total
Sex	M	F	F	M	M	M	F	M	F	M
Developmental delay (motor)	+	+	+	+	+	+	+	+	-	+	9/10
Developmental delay (speech)	+	+		+	+	+	+	+	-	+	8/9
Intellectual Disability	mild	mild	mild	severe	severe	severe	mild	severe	mild	severe	10/10
ASD	+	+	+	+	+	+	±	+	±	+	10/10
ADHD	-	-	+	-	-	+	-	-	-		2/9
Hypotonia	+	+	+	+	+	+	-	+	-		7/9
Growth retardation / Short stature	+	-		+	+	-	-	+	+		5/8
Feeding problems	+	+	+	+	-		-	-		+	5/8
Recurrent infections	+	+		-	+	-	-	+	+		5/8
Congenital heart defect	+	+	-	-		-		+	-	-	3/8
Hyperlaxity	+	+		+	+	+	-	-	+		6/8
Obesity		-		-	+	+	-	±	+		4/7
Hypermetropia		+		+	+		+	+	+		6/6
Seizures		+		-	-	+	-	-	-		2/7
Behavior		+	+	-	+		-	+	+		5/7
Insensitivity to pain				-	+	+		-	-		2/5
MRI brain abnormality	+	+	-	+	+	-		+	-	-	5/9
Prominent forehead	+	+		-	+	-	+	+	-		5/8
High hairline	+	+		-	+	+	+	+	+		7/8
Eversion/notch eyelid	+	+		-	-		-	+	-		3/7
Hypertelorism	+	-		-	-	-	-	-	-		1/8
Broad nasal bridge	+	+		+	-	+	-	+	+		6/8
Short nose	-	-		-	-	+	-	-	+		2/8
Thin upper lip		+		+	+	+	+	+	-		6/7
Hand abnormalities	+	+	+	+	-		-	+	+		6/8
Constipation		-		+	+		-	-	-		2/6