Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic disc
|
phenotype |
|
Finding
|
26
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Broad foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Talipes transversoplanus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Bilateral microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Mirror movements disorder
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
39
|
9
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Defect of vertebral segmentation
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
6
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Overriding toe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
47
|
13
|
0.100 |
None |
|
0 |
|
|
|
Otosclerosis
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
49
|
11
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polypoidal choroidal vasculopathy
|
disease |
|
Disease or Syndrome
|
56
|
67
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.030 |
None |
1.000 |
3 |
1
|
1995 |
2008 |
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
|
|
|
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2015 |
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Azoospermia, Nonobstructive
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
91
|
22
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sweet Syndrome
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
104
|
3
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |