#1 |
M-3 |
a; f |
none |
c.311T>G; p.(Leu104Ter) |
NA |
[18] |
#2 |
F-13 |
a |
learning disability |
c.731-1G>C |
NA |
[19] |
#3 |
M-7 |
a; b; e; g |
none |
c.1541_1542delAG; p.(Gln514Argfs) |
NA |
[20] |
#4 |
M-1 |
a |
none |
c.2693C>T; p.Leu898Pro |
NA |
[21] |
#5 |
M-7 |
a; b; g |
none |
c.3113+1G>C |
NA |
[12] |
#6 |
F-8 |
a; c; g |
T2 flair hyperintense signals in left globus palliadus level |
c.3230_3230delT; p.(Ser1078Hisfs*3) |
NA |
This report |
#7 |
F-52 |
a; b; d |
none |
c.3709-2A>G |
NA |
[22] |
#8 |
F-7 mths |
a; b; f; g |
none |
c.4082delT; p.Leu1601Cysfs*2) |
paternally inherited |
[12] |
#9 |
M-41 |
a; b |
none |
c.4867G>C; p.(Asp1623His) |
NA |
[12] |
#10 |
M-7 |
a; d |
surgery due to severe bowel obstruction; T2 flair hyper-intense signals in both cerebellar hemispheres |
c.5389C>T; p.(Arg1947Ter) |
NA |
[23] |
#11 |
F-17 |
a; e |
coroidal coloboma on the left eye |
c.5546+5G>A |
NA |
[18] |
#12 |
F-2 |
a |
convulsion |
c.5630T>A; p.(Leu1877*) |
paternally inherited |
This report |
#13 |
M-4 |
a |
epileptic seizures; low grade tumor |
c.6709C>T; p.(Arg2237Ter) |
NA |
[24] |
#14 |
M-2 |
a; b |
none |
c.6756+1G>T |
de novo |
[25] |
#15 |
F-33 |
a; b; e; g |
none |
c.7096_7101del; p.(Asn2366_Phe2367del) |
de novo |
[26] |
#16 |
F-13 |
a; b; e |
none |
c.7395-2A>G |
maternally inherited |
[27] |
#17 |
M-7 |
a; d |
none |
Entire gene deletion |
de novo |
[28] |