Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
89
|
17
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.200 |
None |
1.000 |
5 |
|
1986 |
1999 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.020 |
None |
0.500 |
2 |
1
|
2015 |
2015 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Ceroid Lipofuscinosis, Neuronal, 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
23
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
43
|
0.940 |
None |
1.000 |
22 |
43
|
1986 |
2019 |
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
41
|
10
|
0.100 |
None |
|
0 |
2
|
|
|
Complex partial seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
140
|
5
|
0.100 |
None |
|
0 |
|
|
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
3 |
3
|
2015 |
2017 |
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2010 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Generalized cerebral atrophy/hypoplasia
|
disease |
|
Disease or Syndrome
|
14
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Increased neuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
8
|
|
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
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|