Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
3
|
2007 |
2017 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
12 |
1
|
2007 |
2017 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
disease |
|
Disease or Syndrome
|
3
|
43
|
0.600 |
strong |
1.000 |
5 |
43
|
2013 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Executive dysfunction
|
disease |
|
Mental or Behavioral Dysfunction
|
33
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MYOCLONIC-ATONIC EPILEPSY
|
disease |
|
Disease or Syndrome
|
6
|
16
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Epilepsy with myoclonic-atonic seizures
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Accidental Falls
|
phenotype |
|
Injury or Poisoning
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brainstem morphology
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal brain FDG positron emission tomography
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with abnormally slow frequencies
|
phenotype |
|
Pathologic Function
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
EEG with focal sharp slow waves
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with spike-wave complexes (>3.5 Hz)
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Age at menarche
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
267
|
591
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Impulsive Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
276
|
69
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2018 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.220 |
None |
1.000 |
2 |
|
2008 |
2012 |
Familial CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |