Table 4. Brief Phenotypic Description of Patients with SETBP1 LoF Variants.

Patient	Age at Examination	Gender	Mutation	Inheritance	Cognitive	Hyperactive / ADHD	Social Difficulties	Other Behavioral Difficulties	Speech Delay	Motor Delay	Facial Dysmorphism	Seizures or EEG Abnormalities
DNA03-00335	14 yrs	M	p.Ile822Tyrfs*13	de novo	Normal IQ			+	+	+	+
DNA-008897	73 yrs	M	p.Leu411Glyfs*6		Profound ID		+	+	+	+	+
Troina 1274	19 yrs	M	p.Trp532*	de novo	Severe ID			+	+	+	+	-
Troina 1512	17 yrs	M	p.Ser1011*	de novo	Mild ID	+ (3y8m)	+		+	+	+	-
Troina 3097	34 yrs	F	p.Arg143Valfs*64		Severe ID				+	+	+	+
DNA11-21308Z	36 years	F	p.Arg625*		Mild to Moderate ID	+	+	+	+	+	+
DNA11-19324Z	9 yrs	F	p.Arg626*		2 to 2.5 year delay at 9 yr				+	-	+	-
DNA08-08272	9 yrs	M	p.Gly15Argfs*47		Mild ID	+		+	+	+	+	+
Rauch et al	13 yrs	F	p.Lys592*		Mild ID	+	+		+	-	+
9886269	5 yrs	M	deletion	de novo	Global Delay	+			+	+	+	+
Marseglia et al	15 yrs	M	deletion	de novo	Mild ID	+	+	+	+	+	+	+
Filges et al pt 1	7 yrs	M	deletion	de novo	Moderate ID				+	+	+	+
Filges et al pt 2	4 yrs	M	deletion	de novo					+	+	+