Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
GM2-ganglioside accumulation
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Hexosaminidase A Deficiency, Adult Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Psychomotor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Exaggerated startle response
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Apathy
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
83
|
9
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary aspiration
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Endotracheal aspiration
|
phenotype |
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
2
|
|
|
Aspiration, CTCAE
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
GM2-GANGLIOSIDOSIS, CHRONIC
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
GM2-GANGLIOSIDOSIS, LATE ONSET
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.100 |
None |
|
0 |
3
|
|
|
Unintentional Material Aspiration
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
GM2-GANGLIOSIDOSIS, ADULT-ONSET
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Gm2-Gangliosidosis, Variant B1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
1
|
0.400 |
None |
|
0 |
1
|
|
|
Actual Aspiration
|
phenotype |
|
Finding
|
18
|
8
|
0.100 |
None |
|
0 |
|
|
|
GM2-GANGLIOSIDOSIS, SUBACUTE
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
TAY-SACHS DISEASE, JUVENILE/ADULT
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Diffuse Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
56
|
5
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |