Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic labia minora
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tooth, Supernumerary
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Duane Retraction Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
2
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Small labia majora
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Legg-Calve-Perthes Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
9
|
0.100 |
None |
|
0 |
|
|
|
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Open Bite
|
phenotype |
Stomatognathic Diseases
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
CADASIL Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
40
|
23
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Developmental absence of tooth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
41
|
15
|
0.100 |
None |
|
0 |
|
|
|
Radial deviation of finger
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Port-Wine Stain
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
46
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
124
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital hemivertebra
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
4
|
0.100 |
None |
|
0 |
|
|
|
Meckel syndrome type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
53
|
38
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
53
|
69
|
0.300 |
moderate |
|
0 |
|
|
|
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.100 |
None |
|
0 |
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Coxa valga
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
68
|
5
|
0.100 |
None |
|
0 |
|
|
|
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Folic Acid Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
70
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Wide anterior fontanel
|
phenotype |
|
Finding
|
71
|
5
|
0.100 |
None |
|
0 |
|
|
|
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
|
|
|