Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal auditory evoked potential
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Onion bulb formation
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Segmental peripheral demyelination/remyelination
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus equinovarus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Axonal loss
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fibrillary Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Gemistocytic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
45
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pilocytic Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
163
|
14
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Protoplasmic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Anaplastic astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
202
|
12
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Giant Cell Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Oropharyngeal Carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
115
|
15
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sarcomatoid Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
134
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |