Limb myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
15
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Irregular Menstruation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
9
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.100 |
None |
|
0 |
1
|
|
|
Fasciculation, Tongue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
1
|
|
|
Gait imbalance
|
phenotype |
|
Finding
|
57
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Choking episodes
|
phenotype |
|
Pathologic Function
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Increased cup-to-disc ratio
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Menorrhagia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
34
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
20
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
EPILEPSY, PROGRESSIVE MYOCLONIC 7
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2015 |
2017 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.340 |
None |
1.000 |
4 |
1
|
2015 |
2019 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |