Table 2:

Comparison of symptoms across all patients

Symptoms	Individual 1	Individual 2	Individual 3	Individual 4	Individual 5	Individual 6	Individual 7	Individual 8	Individual 9	Individual 10	Individual 11	Individual 12	Individual 13	Individual 14	Individual 15	Present Cohort
DD/ID	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	15/15
Abnormal Muscle Tone	+	+	+	+	+	+	+	+	-	+	+	-	+	+	+	13/15
Seizures	+	-	+	-	-	+	-	+	+	+	+	-	+	+	-	9/15
Abnormal Brain MRI	+	+	+	+	-	+	+	+	-	+	+	+	+	+	-	12/15
Eye anomalies	NA	NA	+	NA	+	-	-	+	-	+	-	-	+	+	+	7/12
Cardiac Defect	NA	NA	-	NA	-	-	-	+	-	+	-	-	-	-	NA	2/11
GI abnormalities	NA	+	-	-	+	+	+	-	-	+	-	+	+	+	+	9/14
GU abnormalities	NA	_	+	-	NA	-	+	-	-	+	-	-	-	+	-	4/13
Musculoskeletal abnormalities	+	+	+	+	+	+	+	-	-	+	+	-	+	+	+	12/15
Short Stature	-	-	+	+	+	-	NA	+	-	+	+	+	+	-	-	8/14
Dysmorphic features	NA	+	+	+	+	+	+	+	-	+	+	+	+	+	+	13/14

Symptoms	Kim et al. (2016)	Tokita et al. (2016)	Takenouchi et al. (2016)	Yang et al. (2019)	Kim et al. (2019)	Slezak et al. (2020)	Yang et al. (2020)	Tan et al. (2020)	Castanedo et al. (2020)	DECIPHER	Total	Percentage
DD/ID	20/20	7/7	1/1	1/1	NA	2/2	1/1	1/1	1/1	9/9	58/58	100%
Abnormal Muscle Tone	15/20	5/6	0/1	N/A	NA	2/2	0/1	1/1	1/1	1/1	38/48	79.2%
Seizures	11/20	4/6	0/1	N/A	NA	1/1	1/1	0/1	1/1	4/4	31/50	58%
Abnormal Brain MRI	17/19	5/6	0/1	1/1	NA	1/1	0/1	1/1	1/1	2/2	40/48	83.3%
Eye anomalies	15/20	5/7	0/1	N/A	NA	2/2	0/1	0/1	1/1	3/3	33/48	68.8%
Cardiac Defect	5/20	3/6	1/1	0/1	NA	1/2	0/1	0/1	1/1	1/1	14/45	31.1%
GI abnormalities	3/20	6/7	0/1	0/1	NA	2/2	1/1	1/1	0/1	3/3	25/51	47.1%
GU abnormalities	6/20	3/6	1/1	NA	2/2	1/2	0/1	1/1	0/1	2/2	20/48	39.5%
Musculoskeletal abnormalities	17/20	6/7	1/1	0/1	NA	1/1	0/1	0/1	1/1	2/2	40/50	80%
Short Stature	10/20	1/7	1/1	1/1	NA	0/2	1/1	1/1	1/1	1/1	25/49	51%
Dysmorphic features	20/20	7/7	1/1	1/1	NA	2/2	0/1	1/1	1/1	8/8	54/56	96.4%