MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
8
|
0.400 |
None |
1.000 |
4 |
8
|
2015 |
2018 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.300 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Congenital digestive system anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
2
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormal emotion/affect behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Pathologic Function
|
3
|
13
|
0.100 |
None |
1.000 |
1 |
8
|
2017 |
2017 |
Severe alcohol dependence
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mixed bipolar I disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
7
|
|
0.200 |
None |
|
0 |
|
|
|
Hepatic Form of Wilson Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Conduct Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
34
|
18
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Mandibulofacial Dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
42
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
TDP-43 Proteinopathies
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
1.000 |
1 |
3
|
2017 |
2017 |
Large head (disorder)
|
phenotype |
|
Finding
|
64
|
116
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
cocaine use
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
8
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Manic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
76
|
|
0.200 |
None |
|
0 |
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Allodynia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
84
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperalgesia, Primary
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
84
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperalgesia, Secondary
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
88
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
Tactile Allodynia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
114
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Depression, Bipolar
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
116
|
2
|
0.200 |
None |
|
0 |
|
|
|