MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
3 |
4
|
2015 |
2016 |
Long neck
|
phenotype |
|
Finding
|
7
|
3
|
0.100 |
None |
|
0 |
|
|
|
Long foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Macroencephaly
|
disease |
|
Congenital Abnormality
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Sparse eyebrow
|
phenotype |
|
Finding
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Large hand
|
phenotype |
|
Finding
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
T-Cell Prolymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
52
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mental impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
|
|
|
RESTING HEART RATE
|
phenotype |
|
Finding
|
80
|
134
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Persistent atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
familial atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
157
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|