WEILL-MARCHESANI SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
8
|
0.610 |
strong |
1.000 |
4 |
7
|
2004 |
2018 |
Weill-Marchesani Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.510 |
None |
1.000 |
2 |
|
2004 |
2018 |
Weill-Marchesani Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
23
|
0.500 |
None |
1.000 |
1 |
|
2018 |
2018 |
Broad skull
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Valve anomalies
|
disease |
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Broad phalanges of the hand
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Weill-Marchesani syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.770 |
strong |
1.000 |
8 |
1
|
2004 |
2019 |
Weill-Marchesani-Like Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
5
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Broad metatarsal
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Microspherophakia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Broad metacarpals
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Shallow anterior chamber of eye
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Thin bony cortex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Broad ribs
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Proportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
19
|
11
|
0.100 |
None |
|
0 |
|
|
|
Shallow orbits
|
phenotype |
Eye Diseases
|
Finding
|
20
|
4
|
0.100 |
None |
|
0 |
|
|
|
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
31
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Misalignment of teeth
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spade-like hand
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
34
|
17
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|