Lacrimal gland hypoplasia
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Flat forehead
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Asymmetrical skull
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Limitation of joint mobility
|
phenotype |
|
Finding
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Shortening of all middle phalanges of the fingers
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Palmoplantar cutis laxa
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Dilation of lateral ventricles
|
phenotype |
|
Finding
|
23
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Brachyturricephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
9
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Congenital malrotation of intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
77
|
5
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Horseshoe Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
51
|
3
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Posterior fossa cyst
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
2
|
|
|
Absent first metatarsal
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
80
|
1
|
0.100 |
None |
|
0 |
|
|
|