Congenital disorder of glycosylation, type 2G
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.600 |
strong |
1.000 |
2 |
1
|
2009 |
2016 |
Cerebrocostomandibular Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
4
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cerebrocostomandibular-Like Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Posterior rib gap
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregularity of vertebral bodies
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Atrial septal dilatation
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Type II transferrin isoform profile
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Temporal cortical atrophy
|
disease |
|
Disease or Syndrome
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal isoelectric focusing of serum transferrin
|
phenotype |
|
Finding
|
15
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar dysplasia
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Enlarged cisterna magna
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Flat acetabular roof
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Broad neck
|
phenotype |
|
Finding
|
22
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal macular morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Anatomical Abnormality
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Mild global developmental delay
|
phenotype |
|
Finding
|
36
|
13
|
0.100 |
None |
|
0 |
|
|
|
Congenital fusion of ribs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Defect of vertebral segmentation
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
6
|
0.100 |
None |
|
0 |
|
|
|
Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
|
|
|
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Coxa valga
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
68
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|