Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
|
|
|
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
109
|
6
|
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 |
|
|
|
Clinodactyly
|
disease |
|
Congenital Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hair Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Clastothrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pili torti developmental delay neurological abnormalities
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Tricuspid Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Pili Torti
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Micronychia (disorder)
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyebrow
|
phenotype |
|
Finding
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Increased carrying angle
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Fragile nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
1
|
0.100 |
None |
|
0 |
|
|
|
Brittle scalp hair
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Malignant transformation
|
phenotype |
|
Neoplastic Process
|
1027
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mitral Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
94
|
11
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Elfin facies
|
phenotype |
|
Sign or Symptom
|
11
|
|
0.100 |
None |
|
0 |
|
|
|