Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries
|
Disease or Syndrome
|
2
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
Motor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
14
|
1
|
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 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Increased neuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nervous system electrophysiology
|
phenotype |
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
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 |
1 |
|
2004 |
2004 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Circadian Rhythms
|
phenotype |
|
Organism Function
|
45
|
84
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Progressive brain disease
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
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 |
|
2018 |
2018 |
Northern epilepsy syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
42
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Photoreceptor degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
136
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lafora Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
92
|
32
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |