Episodic Kinesigenic Dyskinesia 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
153
|
18
|
0.800 |
None |
0.966 |
89 |
16
|
2008 |
2020 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
9
|
0.800 |
definitive |
0.957 |
23 |
9
|
2000 |
2017 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.700 |
None |
1.000 |
9 |
7
|
2011 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.550 |
moderate |
1.000 |
6 |
|
2011 |
2015 |
Paroxysmal kinesigenic choreoathetosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
14
|
6
|
0.500 |
None |
1.000 |
50 |
6
|
2011 |
2020 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.500 |
moderate |
1.000 |
11 |
|
2012 |
2019 |
Paroxysmal nonkinesigenic dyskinesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
10
|
5
|
0.410 |
None |
1.000 |
4 |
|
2012 |
2013 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.400 |
moderate |
0.955 |
22 |
|
2012 |
2019 |
Familial benign neonatal epilepsy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
13
|
0.370 |
None |
1.000 |
10 |
|
2012 |
2015 |
DYSTONIA 18 (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
19
|
0.310 |
None |
1.000 |
4 |
|
2000 |
2013 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.200 |
None |
1.000 |
33 |
|
1999 |
2019 |
Dyskinesias, Paroxysmal
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
15
|
3
|
0.200 |
None |
1.000 |
16 |
|
1999 |
2019 |
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.180 |
None |
1.000 |
8 |
|
2012 |
2018 |
Migraine Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
512
|
264
|
0.180 |
None |
0.875 |
8 |
|
2000 |
2019 |
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.160 |
None |
1.000 |
6 |
1
|
1999 |
2019 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.140 |
None |
0.750 |
4 |
|
2013 |
2019 |
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.130 |
None |
1.000 |
3 |
|
2013 |
2019 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.120 |
None |
1.000 |
2 |
|
2012 |
2013 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Forgetful
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
429
|
18
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |