Sparse eyebrow
|
phenotype |
|
Finding
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Familial Partial Lipodystrophy, Type 3
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
10
|
14
|
0.200 |
None |
|
0 |
|
|
|
Familial Partial Lipodystrophy, Type 2
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
23
|
0.200 |
None |
|
0 |
|
|
|
Familial Partial Lipodystrophy, Type 1
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
|
0 |
|
|
|
Thin clavicle
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Brachyonychia
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.200 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
57
|
70
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Late fontanel closure
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Thin nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pinched nasal tip
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Small placenta
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Large placenta
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Maternal hypertension
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
|
Disease or Syndrome
|
52
|
22
|
0.100 |
None |
|
0 |
1
|
|
|