Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
16 |
1
|
2008 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
2 |
1
|
2010 |
2018 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2011 |
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Prominent fingertip pads
|
phenotype |
|
Finding
|
16
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
|
|
|
Temporal cortical atrophy
|
disease |
|
Disease or Syndrome
|
13
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Frontal cortical atrophy
|
disease |
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Affective Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
23
|
10
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2016 |
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
|
0 |
|
|
|
Impulsive Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
276
|
69
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Abnormal social behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
577
|
441
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |