Gamma aminobutyric acid transaminase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
12
|
0.700 |
None |
1.000 |
5 |
12
|
1998 |
2019 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.500 |
None |
1.000 |
1 |
|
1989 |
2012 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
218
|
417
|
0.410 |
None |
1.000 |
1 |
|
1999 |
2018 |
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
19
|
0.400 |
None |
1.000 |
1 |
4
|
1999 |
2010 |
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
9
|
8
|
0.400 |
None |
1.000 |
1 |
|
1999 |
1999 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
4
|
5
|
0.400 |
None |
1.000 |
1 |
|
1999 |
1999 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
133
|
505
|
0.400 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
31
|
0.310 |
None |
1.000 |
1 |
|
2011 |
2011 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.310 |
None |
1.000 |
1 |
|
2005 |
2005 |
Reflex, Ankle, Decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Abnormal Deep Tendon Reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Reflex, Ankle, Abnormal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Reflex, Anal, Decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Palmo-Mental Reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
2
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Bulbocavernousus Reflex Absent
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Non-epileptic convulsion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Bulbocavernosus Reflex, Decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Developmental Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
1
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Atonic Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Single Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Reflex, Biceps, Abnormal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Reflex, Biceps, Decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Reflex, Gag, Decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Generalized Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
101
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |