Table 2 Minor findings of this study

201,818,593

Male

3 years

GLDC

chr9

c.3049 A > G

p.Arg1017Gly

EX25E

Het

AR

VUS

Brainstem encephalitis

Nonketotic hyperglycinemia (OMIM:605,899)

c.2136 C > G

p.Asp712Glu

EX18

Het

VUS

201,835,756

Female

4 years

ACTN1

chr14

c.143 C > T

p.Ala48Val

EX2

Het

AD

VUS

Disseminated Intravascular Coagulation, DIC (Unknown causes)

Bleeding disorder, platelet-type, 15

(OMIM:615,193)

201,935,603

Female

1 years

POT1

chr7

c.1802 C > T

p.Pro601Leu

EX19E

Het

AD

VUS

Pineal region tumor

Tumor predisposition syndrome 3 (OMIM:616,568)

202,011,946

Female

1 years

SHOC2

chr10

c.365T > C

p.Leu122Ser

EX2

Het

AD

VUS

Atrial septal defect

Noonan syndrome-like with loose anagen hair 1 (OMIM:607,721)/AD

202,023,508

Male

2 years

MYLK

chr3

c.5141T > G

p.Leu1714Arg

EX31

Het

AD

VUS

Acatalepsy

Aortic aneurysm, familial thoracic 7 (OMIM:613,780)

202,101,256

Female

8 days

PRNP

chr20

c.233G > C

p.Gly78Ala

EX2E

Het

AD

VUS

Acatalepsy

Creutzfeldt-Jakob disease (OMIM:123,400)

Insomnia, fatal familial (OMIM:600,072)

202,106,290

Male

1 months

RNF213

chr17

c.6802 C > T

p.His2268Tyr

EX29

Het

AD/AR

VUS

Vascular malformations of the brain? (Uncertain causes)

{Moyamoya disease 2, susceptibility to} (OMIM:607,151)

202,116,626

Female

2 years

ABCC9

chr12

c.285-7T > C

-

IVS2

Het

AD

VUS

Cardiopulmonary arrest (Unknown causes)

Cardiomyopathy, dilated, 1O

(OMIM:608,569)

202,205,085

Female

24 days

KLHL40

chr3

c.554delG

p.Gly185Alafs*14

EX1

Het

AR

LP

Cardiopulmonary arrest (Unknown causes)

Nemaline myopathy 8, autosomal recessive (OMIM:615,348)

c.523G > A

p.Asp175Asn

Het

AR

VUS