Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
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 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
10 |
1
|
2010 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.470 |
None |
0.875 |
8 |
1
|
2010 |
2020 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
None |
1.000 |
6 |
9
|
2001 |
2017 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.310 |
None |
1.000 |
5 |
|
2004 |
2015 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
641
|
225
|
0.310 |
None |
1.000 |
5 |
|
2004 |
2012 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
1.000 |
5 |
2
|
2014 |
2017 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.310 |
None |
1.000 |
5 |
|
2004 |
2015 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.310 |
None |
1.000 |
5 |
|
2004 |
2012 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
1.000 |
5 |
3
|
2014 |
2017 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
1.000 |
4 |
1
|
2014 |
2017 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.130 |
None |
1.000 |
4 |
1
|
2018 |
2020 |
Pica Disease
|
disease |
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
Mental or Behavioral Dysfunction
|
5
|
3
|
0.100 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.020 |
None |
0.500 |
2 |
1
|
2014 |
2016 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2014 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Repetitive compulsive behavior
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
6
|
4
|
0.100 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2014 |
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
2 |
4
|
2017 |
2017 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2020 |
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
91
|
9
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2017 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2017 |
Normal interictal EEG
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
1.000 |
2 |
1
|
2017 |
2017 |