Methylmalonic acidemia with homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
58
|
0.950 |
definitive |
1.000 |
61 |
58
|
2001 |
2019 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
|
disease |
|
Disease or Syndrome
|
2
|
5
|
0.800 |
definitive |
1.000 |
11 |
5
|
2006 |
2018 |
Methylmalonic aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
33
|
4
|
0.440 |
moderate |
1.000 |
5 |
|
2010 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Methylmalonic acidemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
35
|
0.170 |
None |
1.000 |
7 |
1
|
2006 |
2018 |
Homocystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
39
|
27
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2018 |
Anemia, Megaloblastic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
2
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hemolytic-Uremic Syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
110
|
7
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
7 |
1
|
2006 |
2015 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Homocysteine measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Decreased adenosylcobalamin
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Hypomethioninemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Delirium
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
110
|
7
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Drowsiness
|
phenotype |
Mental Disorders
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Cystathioninemia
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Gamma-cystathionase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Decreased methylmalonyl-CoA mutase activity
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|