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 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
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 |
|
|
|
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 |
|
|
|
Circadian Rhythms
|
phenotype |
|
Organism Function
|
45
|
84
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.010 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
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
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.400 |
None |
1.000 |
35 |
14
|
1996 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
58
|
0.970 |
None |
1.000 |
26 |
58
|
1998 |
2019 |