rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
6 |
2008 |
2017 |
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Tonic - clonic seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Generalized seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Tremor of hands
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Strabismus
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Prominent fingertip pads
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Frontal cortical atrophy
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Long palpebral fissure
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Temporal cortical atrophy
|
|
0.700 |
|
0 |
|
|
rs758946412
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Absence Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
17 |
1990 |
2017 |
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
Infantile Severe Myoclonic Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Intellectual Disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1555985372
|
1.000 |
|
X |
100407591 |
frameshift variant |
-/C
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs1555985372
|
1.000 |
|
X |
100407591 |
frameshift variant |
-/C
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs587784299
|
1.000 |
0.200 |
X |
100407903 |
missense variant |
T/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
15 |
2008 |
2017 |
rs1555985448
|
1.000 |
0.200 |
X |
100407813 |
missense variant |
G/T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
12 |
2008 |
2016 |
rs1555985475
|
1.000 |
0.200 |
X |
100407897 |
missense variant |
T/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
12 |
2008 |
2016 |
rs201989363
|
1.000 |
0.200 |
X |
100406898 |
missense variant |
G/A;C;T
|
snv
|
4.4E-05
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
12 |
2008 |
2016 |
rs267606933
|
1.000 |
0.200 |
X |
100406927 |
missense variant |
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
12 |
2008 |
2016 |