Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
moderate |
1.000 |
10 |
|
1959 |
2018 |
Elevated coagulation factor V activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
S-adenosylhomocysteine hydrolase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
5
|
0.700 |
moderate |
1.000 |
13 |
5
|
1959 |
2018 |
Hypermethioninemia due to deficiency of glycine N-methyltransferase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Reduced factor VII activity
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital disorder of glycosylation type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
80
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Vitamin B 6 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hyperhomocystinemia
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Amino Acid Metabolism, Inherited Disorders
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hyperintensity of cerebral white matter on MRI
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of hair texture
|
disease |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hepatic methionine adenosyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
15
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Amino Acid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hepatic Form of Wilson Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cystathionine beta-Synthase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
118
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Antithrombin III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
27
|
52
|
0.100 |
None |
|
0 |
|
|
|
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Anoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
36
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Fibrinogen Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
56
|
4
|
0.100 |
None |
|
0 |
|
|
|