Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
11
|
0.710 |
None |
1.000 |
13 |
11
|
2005 |
2019 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.400 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2005 |
2005 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Grand Mal Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
75
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Complex Partial Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
68
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Status Epilepticus, Subclinical
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
69
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Non-Convulsive Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
71
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Simple Partial Status Epilepticus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
68
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Petit mal status
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.140 |
None |
1.000 |
4 |
2
|
2006 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.110 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Pyridoxine-responsive sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased CSF homovanillic acid
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
High pitched cry
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoargininemia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Low APGAR score
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
EEG with burst suppression
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|