VITAMIN B12 MEASUREMENT
|
phenotype |
|
Laboratory Procedure
|
13
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Transcobalamin II deficiency
|
disease |
|
Disease or Syndrome
|
5
|
5
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Alloimmunisation
|
disease |
|
Disease or Syndrome
|
65
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Perianal Squamous Intraepithelial Neoplasia
|
disease |
|
Neoplastic Process
|
52
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal globus pallidus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
1.000 |
1 |
|
1997 |
1997 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
1
|
|
|
Cataract, total congenital with posterior sutural opacities in Heterozygotes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.020 |
None |
0.500 |
2 |
3
|
2003 |
2016 |
Methylmalonic acidemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
35
|
0.500 |
None |
0.961 |
76 |
25
|
1977 |
2020 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
169
|
0.900 |
definitive |
1.000 |
76 |
166
|
1972 |
2017 |
Methylmalonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
33
|
4
|
0.700 |
strong |
0.963 |
27 |
3
|
1991 |
2020 |