Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
11 |
1
|
2004 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
335
|
611
|
0.100 |
None |
1.000 |
11 |
1
|
2004 |
2016 |
Atrioventricular Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
6
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Low anterior hairline
|
phenotype |
|
Finding
|
13
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Short 5th finger
|
disease |
|
Congenital Abnormality
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
37
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Low posterior hairline
|
phenotype |
|
Finding
|
10
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
7
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Highly arched eyebrow
|
phenotype |
|
Finding
|
15
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
30
|
32
|
0.100 |
None |
|
0 |
1
|
|
|
Clinodactyly of the 4th toe
|
phenotype |
|
Finding
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
4-5 finger syndactyly
|
disease |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Clinodactyly of the 5th toe
|
disease |
|
Anatomical Abnormality
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
9
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Cornelia de Lange Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
264
|
0.100 |
None |
|
0 |
1
|
|
|
Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
9
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
37
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
21
|
52
|
0.100 |
None |
|
0 |
1
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
74
|
93
|
0.100 |
None |
|
0 |
1
|
|
|
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
18
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Arachnoid Cysts
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
6
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
30
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|