Absent tragus
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
18
|
0.800 |
None |
0.938 |
16 |
18
|
1997 |
2019 |
Conductive hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Underdeveloped tragus
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the middle ear
|
phenotype |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
developmentally delayed
|
phenotype |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Accessory oral frenulum
|
disease |
|
Anatomical Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Dysostoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Heterochromia iridis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
17
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the antihelix
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Large earlobe
|
phenotype |
|
Finding
|
18
|
2
|
0.100 |
None |
|
0 |
|
|
|
Slender finger
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|
Goldenhar Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
12
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Mandibulofacial Dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
42
|
30
|
0.150 |
None |
1.000 |
5 |
|
2012 |
2015 |
Deep philtrum
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Overfolded helix
|
phenotype |
|
Finding
|
46
|
7
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly preaxial type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
|
0.100 |
None |
|
0 |
|
|
|
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Preauricular skin tag
|
phenotype |
|
Finding
|
53
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Esophageal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
59
|
6
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2015 |
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal respiratory distress
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
64
|
34
|
0.100 |
None |
|
0 |
1
|
|
|
Radioulnar Synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
67
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |