Abnormal transferrin saturation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
14
|
0.740 |
None |
1.000 |
10 |
14
|
2012 |
2018 |
Increased total iron binding capacity
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Copper accumulation in liver
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
|
disease |
|
Disease or Syndrome
|
3
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Decreased serum ferritin
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal basal ganglia MRI signal intensity
|
phenotype |
|
Anatomical Abnormality
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of amino acid metabolism
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Severe hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Erythrocytosis
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormal globus pallidus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperglycinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Manganese Poisoning
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
16
|
|
0.300 |
None |
1.000 |
2 |
|
2017 |
2018 |
Hypoaldosteronism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dystonia, Diurnal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Micronodular cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Primary Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
19
|
3
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ramsay Hunt Paralysis Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dystonia, Paroxysmal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
28
|
4
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autosomal Dominant Juvenile Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Parkinsonism, Experimental
|
disease |
Nervous System Diseases
|
Experimental Model of Disease
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Familial Juvenile Parkinsonism
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Autoimmune gastritis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
28
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|