rs1057519509
|
1.000 |
|
3 |
9739507 |
missense variant |
C/T
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.800 |
|
0 |
|
|
rs1057519515
|
1.000 |
|
3 |
9739564 |
missense variant |
T/C
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.800 |
|
0 |
|
|
rs1057519510
|
1.000 |
|
3 |
9739762 |
stop gained |
C/T
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519511
|
1.000 |
|
3 |
9734500 |
frameshift variant |
AG/-
|
delins
|
|
|
Neurodevelopmental Disorders
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs1057519511
|
1.000 |
|
3 |
9734500 |
frameshift variant |
AG/-
|
delins
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519512
|
1.000 |
|
3 |
9743763 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519513
|
1.000 |
|
3 |
9745904 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519514
|
1.000 |
|
3 |
9745069 |
stop gained |
C/G
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519516
|
1.000 |
|
3 |
9734707 |
frameshift variant |
T/-
|
del
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1057519517
|
1.000 |
|
3 |
9734243 |
stop gained |
-/A
|
delins
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1553695017
|
1.000 |
|
3 |
9739303 |
stop gained |
C/T
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1553697341
|
1.000 |
|
3 |
9746430 |
inframe deletion |
CTT/-
|
delins
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Small midface
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Short columella
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Feeding difficulties
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Low-set, posteriorly rotated ears
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Limb hypertonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Shallow orbits
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Laryngeal Obstruction
|
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Depressed nasal bridge
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs1559662068
|
0.925 |
|
3 |
9741340 |
frameshift variant |
AG/T
|
delins
|
|
|
Abnormality of aortic arch
|
|
0.700 |
|
0 |
|
|
rs1559662077
|
1.000 |
|
3 |
9741344 |
stop gained |
C/T
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|
rs886041090
|
1.000 |
|
3 |
9739449 |
frameshift variant |
TG/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs886041090
|
1.000 |
|
3 |
9739449 |
frameshift variant |
TG/-
|
delins
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
|
|
0.700 |
|
0 |
|
|