Myopathic facies
|
phenotype |
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
|
|
|
Overfolded helix
|
phenotype |
|
Finding
|
46
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Plasmablastic lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Hereditary Melanoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
50
|
67
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Apraxias
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
71
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Exotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
78
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
|
2017 |
2017 |
Esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Oligohydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Bone neoplasms
|
group |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
151
|
4
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|