Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
2016 |
2016 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Atrophic
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
58
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Developmental Coordination Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
23
|
|
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 |
Inflammation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
467
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Macropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Micropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Motor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Hallucinations, Visual
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
39
|
5
|
0.100 |
None |
|
0 |
|
|
|
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nervous system electrophysiology
|
phenotype |
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Granular osmiophilic deposits (GROD) in cells
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|