MITRAL VALVE PROLAPSE, MYXOMATOUS 2
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
VAN MALDERGEM SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
1 |
4
|
2013 |
2013 |
Heterotopia, Periventricular, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Bilateral choanal atresia/stenosis
|
disease |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Van Maldergem Wetzburger Verloes syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
|
0.520 |
None |
1.000 |
3 |
|
2013 |
2019 |
Periventricular gray matter heterotopia
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.310 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Irregular dentition
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Caudal appendage
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Short fourth metatarsal
|
phenotype |
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Familial mitral valve prolapse
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Wide cranial sutures
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short 4th metacarpal
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pituitary stalk interruption syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
16
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cutaneous finger syndactyly
|
disease |
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absence of pubertal development
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Dysgenesis of corpus callosum
|
disease |
|
Congenital Abnormality
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short clavicle
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Anal Stenosis, CTCAE
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Stricture of anus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of clavicle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Subcortical Band Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Gastrostomy tube feeding in infancy
|
phenotype |
|
Finding
|
38
|
19
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|