Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.700 |
None |
1.000 |
2 |
3
|
2008 |
2011 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.320 |
None |
1.000 |
3 |
|
2005 |
2019 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Robinow syndrome, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
0.200 |
None |
|
0 |
|
|
|
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Graves Disease
|
disease |
Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
585
|
352
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Blood urea nitrogen measurement
|
phenotype |
|
Laboratory Procedure
|
90
|
174
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Epileptic drop attack
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
143
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sensory axonal neuropathy
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Morning myoclonic jerks
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Appendicular
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
EEG with polyspike wave complexes
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|