GM2-ganglioside accumulation
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Glabellar reflex
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Punctate periventricular T2 hyperintense foci
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tay-Sachs Disease, AB Variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
7
|
0.920 |
strong |
1.000 |
9 |
6
|
1991 |
2016 |
Abnormal involuntary eye movements
|
disease |
|
Anatomical Abnormality
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pseudobulbar signs
|
phenotype |
|
Sign or Symptom
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal necrotizing enterocolitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cherry red spot of the macula
|
phenotype |
|
Finding
|
9
|
15
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic quadriplegia
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Endotracheal aspiration
|
phenotype |
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary aspiration
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Aspiration, CTCAE
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Unintentional Material Aspiration
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Inappropriate behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Primitive reflexes (palmomental, snout, glabellar)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Infantile axial hypotonia
|
phenotype |
|
Finding
|
17
|
8
|
0.100 |
None |
|
0 |
|
|
|
Gangliosidoses, GM2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
5
|
0.040 |
None |
1.000 |
4 |
|
1999 |
2016 |
Exaggerated startle response
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Actual Aspiration
|
phenotype |
|
Finding
|
18
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hyperacusis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
9
|
0.100 |
None |
|
0 |
|
|
|
Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
48
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Schimke immunoosseous dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
21
|
19
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Tay-Sachs Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
129
|
0.430 |
strong |
1.000 |
4 |
2
|
2000 |
2015 |
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|