MECKEL SYNDROME, TYPE 10
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.500 |
None |
1.000 |
2 |
4
|
2011 |
2015 |
Double ureter
|
disease |
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Urethral atresia
|
disease |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Molar tooth sign on MRI
|
phenotype |
|
Finding
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Full cheeks
|
phenotype |
|
Finding
|
103
|
4
|
0.100 |
None |
|
0 |
|
|
|
Narrow palpebral fissure
|
phenotype |
|
Finding
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the tongue
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the iris
|
disease |
|
Anatomical Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal chorioretinal morphology
|
disease |
|
Anatomical Abnormality
|
36
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2015 |
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.100 |
None |
|
0 |
|
|
|
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.410 |
None |
1.000 |
2 |
4
|
2011 |
2015 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|