SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.900 |
limited |
0.923 |
13 |
1
|
2002 |
2020 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.300 |
limited |
1.000 |
1 |
|
2002 |
2002 |
Neuropathy in association with hereditary ataxia
|
disease |
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2018 |
Uveal melanoma
|
disease |
Neoplasms; Eye Diseases
|
Neoplastic Process
|
376
|
22
|
0.110 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.100 |
None |
1.000 |
12 |
1
|
2002 |
2020 |
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.100 |
None |
1.000 |
11 |
1
|
2002 |
2020 |
epithelioid cell intraocular melanoma
|
disease |
Neoplasms; Eye Diseases
|
Neoplastic Process
|
1
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Absence of pain sensation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Global brain atrophy
|
phenotype |
|
Pathologic Function
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Sensory neuropathy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
116
|
15
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, End-Position
|
disease |
|
Disease or Syndrome
|
26
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Spinocerebellar tract degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar vermis atrophy
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|