COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
2 |
4
|
2012 |
2016 |
Precocious female puberty
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
SCN8A-related epilepsy with encephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
52
|
0.720 |
None |
1.000 |
30 |
52
|
2002 |
2017 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.700 |
None |
1.000 |
3 |
5
|
2014 |
2016 |
Interictal epileptiform activity
|
phenotype |
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
B Virus Infection
|
disease |
Infections
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Developmental stagnation at onset of seizures
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Adiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Cerebellar Hemiataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
9
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypermetria (finding)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Normal interictal EEG
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
No social interaction
|
phenotype |
Mental Disorders
|
Finding
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Paroxysmal choreoathetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased palmar creases
|
phenotype |
|
Finding
|
6
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Appendicular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Saturnine Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Senile Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Persistent Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Continuous Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Intermittent Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Fine Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Coarse Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Massive Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |