Table 2 Available information about genitourinary (GU) phenotype of patients reported in this study

P1

p.N151fs

Mother negative, father's sample unavailable

Mild unilateral pelviectasis (HP:0010946) and frequent UTIs (HP:0000010)

P2

p.K154fs

De novo

Genital anomalies (HP:0000078)

P3

p.L164fs

De novo

Kidney abnormalities (not specified; HP:0000077)

P4

p.G168fs

De novo

Hypospadias (HP:0000047), micropenis (HP:0000054), and congenital chordee (HP:0000041)

P5

p.V173F

De novo

Renal ultrasound is normal with normal genitalia on exam

P6

p.R205X

De novo

Left renal agenesis (HP:0000122)

P7

p.L245R

De novo

Left renal agenesis (HP:0000122)

P8

p.R263X

De novo

Shawl scrotum (HP:0000049) and history bilateral orchiopexy (HP:0000028)

P9

p.S329fs

De novo

Hypospadias (HP:0000047) and kidney abnormalities (tiny echogenic foci)

P10

p.G348R

De novo

Normal renal ultrasound

P11

c.1098+1G>A

De novo

Unknown

P12

p.A388fs

Mother negative, father is mosaic

Frequent UTI (HP:0000010)

P13

p.K406fs

De novo

Unknown

P14

p.R437X

De novo

Unknown

P15

p.R437X

Mother negative, father's sample unavailable

Normal renal ultrasound

P16

p.R437X

De novo

Normal renal ultrasound

P17

p.R467Q

De novo

Unknown

P18

p.R467X

De novo

Orchiopexy (HP:0000028) and inguinal hernia (HP:0000023)

P19

p.S494fs

De novo

Bilateral inguinal hernias (HP:0000023) but no renal ultrasound