EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
disease |
|
Disease or Syndrome
|
1
|
65
|
0.700 |
None |
1.000 |
38 |
65
|
2004 |
2019 |
Early infantile epileptic encephalopathy, refractory
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Epilepsy, Benign Neonatal, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Epilepsy, Familial Mesial Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2006 |
2006 |
Seizures in the newborn, refractory
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
46
|
0.660 |
None |
0.970 |
33 |
46
|
2001 |
2018 |
Late onset epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Convulsions, Benign Familial Infantile, 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Normal interictal EEG
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bart's Hemoglobinopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Truncal titubation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Epilepsy of infancy with migrating focal seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Prader-Willi-like syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
17
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Acute encephalopathy with biphasic seizures and late reduced diffusion
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2015 |
Afebrile seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2002 |
2002 |
Febrile infection related epilepsy syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
EPILEPSY, BENIGN NEONATAL, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
20
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Benign Familial Convulsion
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
7
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Migrating partial seizures in infancy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Limited knee extension
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Primary Caesarian section
|
phenotype |
|
Finding
|
11
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Sudden unexplained death in epilepsy
|
disease |
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tibial torsion
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Focal Clonic Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|