6q terminal deletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
1 |
|
2013 |
2013 |
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the ribs
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.300 |
None |
|
0 |
|
|
|
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
|
0 |
|
|
|
Broad philtrum
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
160
|
7
|
0.100 |
None |
|
0 |
|
|
|
Colpocephaly
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Gynecomastia
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hallux Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
61
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
136
|
10
|
0.100 |
None |
|
0 |
|
|
|
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
|
0 |
|
|
|