Guanidinoacetate methyltransferase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
18
|
0.940 |
definitive |
1.000 |
30 |
18
|
1940 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.600 |
strong |
1.000 |
2 |
|
2005 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.600 |
strong |
1.000 |
2 |
|
1996 |
2005 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
limited |
1.000 |
1 |
|
2014 |
2014 |
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
143
|
6
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
140
|
5
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Tonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
108
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Olfactory seizure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Somatosensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Auditory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Gustatory seizure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Vertiginous seizure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Convulsive Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
117
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Atonic Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Single Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
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 |
|
2005 |
2005 |
Non-epileptic convulsion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Clonic Seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Epileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
250
|
7
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Generalized Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |