Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2010 |
2017 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
10 |
1
|
2010 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
10 |
2
|
2010 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
10 |
1
|
2010 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
3
|
2010 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.140 |
None |
1.000 |
7 |
3
|
2012 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.160 |
None |
1.000 |
6 |
2
|
2015 |
2020 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.040 |
None |
1.000 |
4 |
|
2016 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.330 |
None |
1.000 |
4 |
|
2017 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2018 |
Asymptomatic
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
3 |
1
|
2012 |
2013 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
1.000 |
3 |
2
|
2012 |
2013 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2013 |
2015 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2019 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.320 |
None |
1.000 |
2 |
|
2016 |
2017 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2015 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
2 |
|
2017 |
2018 |
Mitochondrial abnormalities
|
disease |
|
Anatomical Abnormality
|
83
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |