Decreased methylcobalamin
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased methionine synthase activity
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
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 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hyperhomocystinemia
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Hypomethioninemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |