CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
42
|
0.920 |
None |
1.000 |
20 |
41
|
1998 |
2019 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.830 |
None |
1.000 |
7 |
6
|
1998 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.700 |
None |
0.952 |
21 |
6
|
1998 |
2019 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.590 |
None |
1.000 |
11 |
|
1998 |
2019 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
52
|
73
|
0.580 |
None |
1.000 |
10 |
|
1998 |
2019 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.320 |
None |
1.000 |
3 |
|
2012 |
2015 |
Infantile neuronal ceroid lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
22
|
4
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2013 |
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Metamorphopsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Macropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Atrophic
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
58
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
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 |
Micropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Dentatorubral-Pallidoluysian Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
95
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Vision Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Motor Skills Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hemeralopia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Inflammation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
467
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Vision Disability
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |