Table 1 CEMECO’s UCDs cohort description

I

Symptomatic female

OTC

delExon1–10

7 m

ND †

Symptomatic female

OTC

delExon 1–10

3y

ND, DA

Hemizygous neonatal onset

OTC

delExon 1–10

5d

ND †

Asymptomatic female

OTC

delExon1–10

Asymptomatic female

OTC

delExon1–10

II

Hemizygous late onset

OTC

c.216 + 1G > A

Affects splicing

2y

Asymptomatic female

OTC

c.216 + 1G > A

Affects splicing

III

Hemizygous late onset

OTC

c.386G > A

Affects splicing

6 m

ND

Asymptomatic female

OTC

c.386G > A

Affects splicing

IV

Symptomatic female

OTC

c.452 T > G

p.Leu151Arg

4y

ND

V

Symptomatic female

OTC

c.533C > T

p.Thr178Met

10 m

ND

Hemizygous neonatal onset

OTC

c.533C > T

p.Thr178Met

48-72hs

ND †

Asymptomatic female

OTC

c.533C > T

p.Thr178Met

VI

Symptomatic female

OTC

c.540 + 1G > A

Intronic

9 m

ND

VII

Hemizygous neonatal onset

OTC

c.540 + 1G > A

Intronic

48-72hs

Asymptomatic female

OTC

c.540 + 1G > A

Intronic

VIII

Hemizygous late onset

OTC

c.622G > A

p.Ala208Thr

8y

Asymptomatic female

OTC

c.622G > A

p.Ala208Thr

IX

Hemizygous late onset

OTC

c.829C > T

p.Arg277Trp

10y

†

Asymptomatic female

OTC

c.829C > T

p.Arg277Trp

X

Symptomatic female

OTC

dup1–9/del10

–

9 m

†

XI

Hemizygous neonatal onset

OTC

c.697delG

p.Ala233Glnfs*14

48-72hs

†

Asymptomatic female

OTC

c.697delG

p.Ala233Glnfs*14

Asymptomatic female

OTC

c.697delG

p.Ala233Glnfs*14

XII

Hemizygous neonatal onset

OTC

NA

NA

48-72hs

†

XIII

Symptomatic female

OTC

NA

NA

48-72hs

†

XIV

Late

ASS1

c.79 T > C / c.847G > A

p.Gln27* / p.Glu283Lys

45d

XV

Late

ASS1

c.79 T > C / c.970G > A

p.Gln27* / p.Gly324Ser

16d

†

XVI

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XVII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XVIII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XIX

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XX

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXI

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXIII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXIV

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXV

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXVI

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXVII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXVIII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXIX

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXX

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXXI

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXXII

Neonatal

ASS1

c.1168G > A /c.1168G > A

p.Gly390Arg /p.Gly390Arg

48-72hs

†

XXXIII

Neonatal

ASL

c.857A > G/c.328G > T

p.Gln286Arg/p.Gly110*

48-72hs

†

XXXIV

Late

ASL

c.857A > G/c.436C > T

p.Gln286Arg/p.Arg146Trp

20 m

XXXV

Neonatal

ASL

c.857A > G/c.857A > G

p.Gln286Arg/p.Gln286Arg

48-72hs

ND

XXXVI

Neonatal

ASL

c.857A > G/c.857A > G

p.Gln286Arg/p.Gln286Arg

48-72hs

†