Table 1.

Summary of clinical features of individuals with bi-allelic UBR7 variants

Individual	1	2	3	4	5	6	7
Variant allele 1	c.37G>T, p.Glu13∗	c.914G>C, p.Trp305Ser	c.496−2A>G	c.618delT, p.Glu207Argfs∗12	c.618delT, p.Glu207Argfs∗12	c.1186−1G>C	c.1186−1G>C
Variant allele 2	c.564_565dup, p.Cys189Phefs∗14	c.914G>C, p.Trp305Ser	deletion of exons 1–10	c.618delT, p.Glu207Argfs∗12	c.618delT, p.Glu207Argfs∗12	c.1186−1G>C	c.1186−1G>C
Gender	M	M	M	M	M	M	F
Age at last examination	9 years	17 years	3 years 9 months	7 years	3 years 7 months	5 years	1 year 10 months (deceased at 2 years)
Short stature	+	+	+	−	−	+	+
DD/ID	+	+	+	+	+	+	+
Epilepsy	−	+	+	+	+	+	+
Hypotonia	−	+	+	+	+	+	+
Ptosis	+	−	−	+	+	+	+
Hypothyroidism	+	−	+	+	+	−	−
Genital anomalies	+a	+b	+b	+b	+b	+b	−
Cardiac anomalies	+c	+d	+c,e	−	−	+f	+d

M, male; F, female; DD, developmental delay; ID, intellectual disability.

^aSmall penis.

^bCryptorchidism.

^cPatent ductus arteriosus.

^dVentricular septal defect.

^ePatent foramen ovale.

^fAtrial septal defect.