# | Sex-Age | NIH Criteria | Additional Findings |
---|---|---|---|
#18 | F-19 | a | afebrile convulsion; glial tumor |
#19 | M-17 | a; b | none |
#20 | M-6 | a; b | none |
#21 | F-4 | a | none |
#22 | M-2 | a | none |
#23 | M-16 | a | T2 flair hyperintensive signals in the brain |
#24 | M-15 | c | dysmorphic appearance of the face |
# | Sex-Age | NIH Criteria | Additional Findings | Pathogenic Variant (NM_000267) | Genetic Analysis | Ref. |
---|---|---|---|---|---|---|
#1 | M-3 | a; f | none | c.311T>G; p.(Leu104Ter) | NA | |
#2 | F-13 | a | learning disability | c.731-1G>C | NA | |
#3 | M-7 | a; b; e; g | none | c.1541_1542delAG; p.(Gln514Argfs) | NA | |
#4 | M-1 | a | none | c.2693C>T; p.Leu898Pro | NA | |
#5 | M-7 | a; b; g | none | c.3113+1G>C | NA | |
#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 | |
#8 | F-7 mths | a; b; f; g | none | c.4082delT; p.Leu1601Cysfs*2) | paternally inherited | |
#9 | M-41 | a; b | none | c.4867G>C; p.(Asp1623His) | NA | |
#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 | |
#11 | F-17 | a; e | coroidal coloboma on the left eye | c.5546+5G>A | NA | |
#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 | |
#14 | M-2 | a; b | none | c.6756+1G>T | ||
#15 | F-33 | a; b; e; g | none | c.7096_7101del; p.(Asn2366_Phe2367del) | ||
#16 | F-13 | a; b; e | none | c.7395-2A>G | maternally inherited | |
#17 | M-7 | a; d | none | Entire gene deletion |
# | Sex-Age | NIH Criteria | Additional Findings | Pathogenic Variant (NM_000267) |
---|---|---|---|---|
#6 |
F-8 |
a; c; g |
none |
c 3230_3230de1IT; p (Ser1078Wiefe*3) |
#8 |
F-7 mths |
a; b; f; g |
none |
c.4802de1T; p.(Leu1601Cysis*2) |
#12 |
F-2 |
a |
afebrile convulsion |
c.5630T>A; p.(Leu1877*) |
#15 |
F-33 |
a; b; d; g |
ptosis in his left eye |
c.7096_7101de1; p.(Asn2366_Phe2367de1) |
#16 |
F-13 |
a; b; d; g |
none |
C.7395-2A>G |