EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
9 |
2
|
2012 |
2016 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.320 |
moderate |
1.000 |
4 |
|
2012 |
2017 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.310 |
None |
1.000 |
2 |
|
2018 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.310 |
moderate |
1.000 |
2 |
|
2014 |
2016 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
88
|
4
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital disorder of glycosylation type 1s
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.110 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.110 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
1 |
2
|
2013 |
2013 |
Impaired pain sensation
|
phenotype |
|
Finding
|
41
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
|
|
|
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|