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

Table 2.

Comparison of clinical characteristics of present series 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)]

Clinical characteristics^a	HPO ID	RAD21 (n = 29)		SMC1A (n = 51)		NIPBL (n = 67)
Clinical characteristics^a	HPO ID	N pos/N total	Percentage	N pos/N total	Percentage	N pos/N total	Percentage
Sex (male/female)		15/14	52/48	14/37	27/73	34/33	51/49
Familial mutation		5/12	42	4/47	9	n/a	n/a
Length at birth < − 2SD	HP:0003561	2/18	22	9/31	28	32/43	74
Weight at birth < − 2SD	HP:0001511	4/22	18	11/41	27	29/43	67
Prenatal head circumference < − 2SD	HP:0000252	7/16	44	8/24	33	39/43	91
Postnatal height < − 2SD	HP:0008897	10/27	37	24/38	63	37/43	86
Postnatal weight < − 2SD	HP:0004325	3/26	12	14/37	38	39/43	91
Postnatal head circumference < − 2SD	HP:0000252	16/28	57	23/36	64	54/62	87
Brachycephaly	HP:0000248	8/19	42	17/42	40	44/67	66
Low anterior/posterior hairline	HP:0000294/HP:0002162	14/23	61	30/43	70	57/67	85
Arched eyebrows	HP:0002553	18/27	67	32/44	73	54/67	81
Synophrys	HP:0000664	19/28	68	37/46	80	61/67	91
Thick eyebrows	HP:0000574	20/24	83	37/46	80	61/67	91
Long eyelashes	HP:0000527	21/26	81	38/45	84	65/67	97
Concave nasal ridge	HP:0011120	24/29	83	20/43	47	57/67	85
Upturned nasal tip	HP:0000463	19/27	70	26/46	57	58/67	87
Short nose	HP:0003196	23/26	88	26/46	57	58/67	87
Long and/or smooth philtrum	HP:0000343/HP:0000319	26/29	90	27/43	63	54/67	81
Thin upper lip vermillion	HP:0000219	23/29	79	33/44	75	22/24	92
Thin lips, downturned corners mouth	HP:0002714	16/27	59	33/46	72	23/24	96
Highly arched palate	HP:0000218	8/22	36	11/37	30	35/67	52
Cleft palate or submucous cleft palate	HP:0000175/HP:0410031	6/25	24	10/45	22	20/67	30
Widely spaced or absent teeth	HP:0000687/HP:0006349	2/20	10	13/44	30	18/23	78
Micrognathia	HP:0000347	8/23	35	18/45	40	50/67	75
Low-set and/or malformed ears	HP:0000369/HP:0000377	14/26	54	18/45	40	45/67	67
Major limb malformation	HP:0001180/HP:0009776	0/29	0	0/49	0	17/67	25
Small hands	HP:0200055	5/27	19	32/45	71	53/63	84
Proximally placed thumb	HP:0009623	6/18	33	18/44	41	11/20	55
Clinodactyly 5th finger	HP:0004209	13/24	54	21/45	47	42/63	67
Short 5th finger	HP:0009237	23/28	82	21/45	47	42/63	67
Syndactyly hands	HP:0006101	1/19	5	1/37	3	4/63	6
Abnormal palmar crease	HP:0010490	9/21	43	5/40	13	21/29	72
Dislocated elbow/abnormal extension	HP:0005021/HP:0001377	11/24	46	2/40	5	20/34	59
Small feet	HP:0001773	3/27	11	29/44	66	65/67	97
Syndactyly 2nd–3rd toes	HP:0004691	4/24	17	13/46	28	21/66	32
Scoliosis	HP:0002650	2/20	10	4/40	10	1/42	2
Hip dislocation or dysplasia	HP:0002827/HP:0001385	2/19	11	2/40	5
Ptosis	HP:0000508	11/26	42	4/40	10	8/42	19
Visual impairment	HP:0000505	0/24	0	20/38	53	29/66	44
Myopia ≥ − 6.00 D	HP:0011003	≤ 2/24^b	≤8	11/40	28	6/40	15
Hearing loss	HP:0000365	8/24	33	16/39	41	43/66	65
Seizures	HP:0001250	2/22	9	20/44	45	10/66	15
Cutis marmorata	HP:0000965	3/23	13	19/44	43	27/43	63
Hirsutism	HP:0001007	10/26	38	37/47	79	37/43	86
CNS major and minor malformations (MRI brain)	HP:0012443	2/5	40	5/43	12
Heart (major and minor)	HP:0001627	9/23	39	13/44	30	18/66	27
Major malformation of gut	HP:0012718	4/30	13	3/44	7	6/24	25
Diaphragmatic hernia	HP:0000776	1/30	3	1/40	3	6/24	25
Gastroesophageal reflux disease	HP:0002020	13/25	52	25/42	60	47/66	71
Genitourinary system major^c	HP:0000119	1/20	5	4/42	10	0/67	0
Genitourinary system minor	HP:0000119	8/23	35	9/40	23	46/67	69

HPO ID human phenotype ontology identifier, CNS central nervous system

^aOnly features which could be compared across at least two cohorts are presented. Full clinical description with individual data are presented in supplementary Table S3

^b2 of the 24 cases have myopia but unspecified severity

^cUni/bilateral renal anomalies