Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.150 |
None |
1.000 |
5 |
2
|
2008 |
2019 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
1
|
|
|
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.100 |
None |
1.000 |
10 |
1
|
2008 |
2019 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
1
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.100 |
None |
|
0 |
1
|
|
|
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |