Congenital disorder of glycosylation type 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
9
|
0.920 |
None |
1.000 |
6 |
9
|
1996 |
2016 |
Miscarriage
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
426
|
56
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Early Pregnancy Loss
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abortion, Tubal
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slender long bone
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
1
|
|
|
Macrodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Gingival Overgrowth
|
phenotype |
Stomatognathic Diseases
|
Finding
|
100
|
5
|
0.100 |
None |
|
0 |
|
|
|
Antithrombin III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
27
|
52
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Reduced factor XI activity
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the rib cage
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced factor IX activity
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Type II transferrin isoform profile
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|