Table 2. Clinical features in individuals with recurrent 3q13.2q13.31 deletions.

	Patient	1	2	3	4	5	6	7	8	9	Total	Previous reportsa
	Inheritance	dn	dn	dn	dn	Not mat	dn	Unk	dn	dn	7/7 dn	3/3 dn
Demographics	Age	8y	3y	9y 8m	3y 4m	16m	42y	16y	10y	5y		10-13y
	Sex	F	M	F	M	M	F	F	M	F		2M, 1F
Growth	Height standard deviations	+1.7	+2.4	-0.4	WNL	+1.5	-0.9	0	+1.7	+0.7	1/9>+2	1/3 >+2
	Weight standard deviations	+2.2	+0.7	-0.4	WNL	-0.7	obese	0	+1.0	+1.2	2/9>+2	1/3 >+2
	OFC standard deviations	+2.1	+0.7	+0.7	+0.9	+2.3	+1.1	+2.1	+1.6	+1.1	3/9>+2	0/3 >+2
Neurological	Cognitive delay	-	+	+	+	+	+	+	+	+	8/9	3/3
	Motor delay	+	+	+	+	+	+	+	+	+	9/9	3/3
	Language delay/disability	+	+	+	+	+	+	+	+	+	9/9	2/3
	Brain abnormality	-	NA	+	-	+	NA	-	+	+	4/7	NS
	Seizures/EEG abnormalities	+	-	+	-	-	+	-	+	-	4/9	0/3
	Hypotonia	+	+	+	+	+	+	+	+	+	9/9	0/1
	Reduced reflexes	+	-	-	-	+	NS	-	-	+	3/8	NS
	Abnormal behaviors	+	+	+	+	-	+	-	+	+	7/9	1/3
	Autism spectrum disorder	-	-	+	+	-	-	-	-	+	3/9	0/3
	Enuresis	+	-	+	-	NA	+	-	+	-	4/8	NS
Musculoskeletal	Lordosis/scoliosis	+	-	+	-	-	-	+	-	-	3/9	0/3
	Foot abnormalities	+	+	-	-	-	+	+	-	-	4/9	0/3
Craniofacial	Absent eyebrows	-	-	-	-	-	+	+	-	-	2/9	0/2
	Epicanthal folds	-	+	-	+	+	+	-	+	+	6/9	1/2
	Down-slanting PF	+	+	+	-	+	+	-	+	-	6/9	0/3
	Ptosis	+	-	+	-	-	+	+	-	-	4/9	0/2
	Broad nasal bridge	+	+	-	+	+	-	-	-	+	5/9	1/2
	Bulbous nasal tip	-	-	+	+	+	-	-	+	-	4/9	1/2
	High/abnormal palate	+	-	-	-	-	+	-	+	-	3/9	NS
	Prominent lower lip	+	+	-	+	+	-	+	-	-	5/9	1/2
Ocular	Myopia/hyperopia	+	-	-	-	-	-	+	+	-	3/9	0/2
	Strabismus/nystagmus	-	+	+	-	-	+	-	-	+	4/9	1/2
Urogenital	Genital abnormalities	-	-	-	-	+	-	-	+	-	2/4 M	1/2 M
	Renal abnormalities	-	-	-	-	-	-	-	+	-	1/9	0/3

dn, de novo; F, female; M, male; m, months; mat, maternal; NA, not applicable; NS, not specified; OFC, occipitofrontal circumference; PF, palpebral fissures; Unk, unknown; WNL, within normal limits; y, years

^aThree patients reported by Molin et al. (cases 9-11) (14) were approximately of the same size and may represent this recurrent deletion.