Guanidinoacetate methyltransferase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
18
|
0.940 |
definitive |
1.000 |
21 |
18
|
1940 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.600 |
strong |
1.000 |
2 |
|
1996 |
2005 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
218
|
417
|
0.600 |
strong |
1.000 |
2 |
|
2005 |
2014 |
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
5
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
21
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.400 |
None |
1.000 |
1 |
|
2005 |
2005 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
86
|
61
|
0.400 |
limited |
1.000 |
1 |
|
2014 |
2014 |
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
5
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Non-epileptic convulsion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Single Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Atonic Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Convulsive Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
9
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Seizures, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Myoclonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
104
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Epileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Convulsions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
102
|
1
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Nonepileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
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 |
Amino Acid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Jacksonian Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
6
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |