14q11.2 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
14q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Abnormal CNS myelination
|
disease |
|
Anatomical Abnormality
|
9
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal involuntary movement
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
22
|
10
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the antihelix
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the antitragus
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic nerve
|
phenotype |
|
Finding
|
18
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Acrocallosal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
22
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2013 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.120 |
None |
1.000 |
2 |
|
2008 |
2018 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anxiety Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
840
|
163
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aplasia/Hypoplasia involving the central nervous system
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/Hypoplasia of the cerebellum
|
phenotype |
|
Finding
|
116
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
|
0 |
|
|
|
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|