ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
disease |
|
Disease or Syndrome
|
1
|
16
|
0.700 |
None |
1.000 |
4 |
16
|
2016 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.610 |
strong |
1.000 |
3 |
|
2016 |
2019 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.320 |
None |
1.000 |
3 |
|
2016 |
2017 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2016 |
Quadriparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
5
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Degenerative Diseases, Central Nervous System
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Seizures, Somatosensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Respiratory Depression
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
24
|
5
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Nonepileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
140
|
5
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Clonic Seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Tonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
108
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Single Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |