. 2020 Mar 19;139(5):575–592. doi: 10.1007/s00439-020-02138-2

Table 3.

Cognitive and behavioral characteristics of individuals with RAD21 variants with sufficient clinical data (cohort A) with those in individuals with SMC1A and NIPBL variants

[adapted from (Huisman et al. 2017; Moss et al. 2017; Mulder et al. 2019)]

	RAD21 (n = 29)		SMC1A (n = 51)		NIPBL (n = 67)
	N pos/N total	%	N pos/N total	%	N pos/N total	%
Cognitive functioning^a
Normal cognition	3/29^b	10	3/28	11	0/58	0
Mild disability (HP:0001256)	13/29	45	6/28	21	4/58	7
Moderate disability (HP:0002342)	4/29^c	14	9/28	32	16/58	28
Severe disability (HP:0010864)	0/29	0	6/28	21	27/58	47
Profound disability (HP:0002187)	0/29	0	4/28	14	11/58	19
Disability present, severity unspecified (HP:0001249)	2/29	7
Developmental problems, too young to determine reliably cognitive functioning (HP:0012759)	7/29	24
Developmental milestones^d
Sitting without support		100^e		75^e		54^e
Attained on target (age < 12 months)	10/10		n/a		n/a
Attained before age 3 years	10/10		18/24		28/52
Attained later			3/24		23/52
Not attained yet (in patients aged ≥ 5 years)			3/24		1/52
First words		100^e		35^e		8^e
Attained on target (age < 15 months)	6/15		n/a		n/a
Attained before age 3 years	15/15		7/20		4/53
Attained later			4/20		16/53
Not attained yet patients aged ≥ 5 years)			9/20		33/53
Walking without support		100^e		57^e		≥29^e,g
Attained on target (age < 18 months)	12/16		n/a		1/52
Attained before age 3 years	16/16		17/30		2/52
Attained later			9/30		12/52
Not attained yet (in patients aged ≥ 5 years)			4/30		19/52
Delay on one or more milestone	12/16	75	18/20	90	51/52	98
Behavior^f
Attention deficit disorder ± hyperactivity	8/23	35
Obsessive–compulsive behavior	6/19	32	10/26^h	38
Anxiety	10/19	53
Constant roaming	3/15	20
Aggression	1/16	6			12/15^h	80
Self-injurious behavior	1/18	6	11/31	35	47/61	77
Extreme shyness or withdrawal	0/17	0
Autistic-like features	7/20	35	18/31^h	56	9/13^h	69
One or more behavioral domains affected	14/25	56

HP human phenotype ontology identifier

^aRAD21, 8 formal test results, others physician reported data. Equivalent HP is shown between brackets

^bIncludes 2 adults with learning disabilities but reported normal cognitive functioning

^cIncluding 2 moderate/severe

^dOnly scored if child was older than target age

^ePercentage of individuals that attain the milestone before age 3 years

^fRAD21: 5 formal test results, others physician-reported data

^gIncluding 18 patients that attained the milestone late, but age unknown

^hBased on formal testing