Nature

Table 1 Clinical features of 49 individuals with RNU4-2 variants

From: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Clinical feature
Individuals (n)		49
Sex		21 F, 28 M
		Median	Range
Age at last evaluation (years)		10	2–38
Maternal age at birth (years)^a		32	22–41
Paternal age at birth (years)^b		33	26–45
		Count^c	Percentage (%)
Growth	IUGR	8 out of 45	18
	Short stature	37 out of 49	76
	Microcephaly	37 out of 48	77
	- congenital	19 out of 37
	- acquired	9 out of 37
	- not specified	9 out of 37
Neurodevelopmental	GDD	49 out of 49	100
	- severe	34 out of 49
	- moderate	10 out of 49
	- not specified	5 out of 49
	Ambulatory (>5 years old)	30 out of 36	83
	- abnormal gait	7 out of 30
	- not specified	23 out of 30
	Speech abnormality	45 out of 48	94
	- non-verbal	35 out of 45
	- few words	10 out of 45
	ID	45 out of 45	100
	Behavioural issues	30 out of 45	67
	ASD	21 out of 44	48
	Sleep issues	15 out of 32	47
	Hypotonia	39 out of 45	87
	Seizures	37 out of 48	77
	Abnormal brain MRI	41 out of 45	91
Hearing	Hearing loss	10 out of 46^d	22
Vision	Vision issues	38 out of 48	79
	- optic nerve hypoplasia	8 out of 37	22
	- strabismus	23 out of 45	51
	- nystagmus	18 out of 40	45
Gastrointestinal	Constipation	29 out of 44	66
	GORD	21 out of 43	49
	Feeding difficulties	32 out of 42	76
	G-tube	13 out of 41	32
	Growth problems	30 out of 43	70
Endocrine		17 out of 39	44
Bone and/or skeletal		27 out of 42	64
Limb		23 out of 42	55
Genitourinary		15 out of 43	35
Dental		17 out of 43	40
Cardiac		5 out of 43	12
Cutaneous		25 out of 44	57
Dysmorphic facial features		45 out of 48	94

F, female; M, male; IUGR, intrauterine growth restriction; GDD, global developmental delay; ID, intellectual disability; ASD, autism spectrum disorder; MRI, magnetic resonance imaging; GORD, gastro-oesophageal reflux disease; G-tube, gastrostomy tube.
^aMaternal age available for 43 out of 49 individuals.
^bPaternal age available for 41 out of 49 individuals.
^cDenominator indicates the number of individuals for whom data were available.
^dOne individual has a dual diagnosis in GJB2 that would account for the hearing loss.

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