SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
10 |
3
|
2012 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2012 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Soft tissue mass
|
phenotype |
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Recurrent tumor
|
phenotype |
|
Neoplastic Process
|
735
|
33
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Tubulointerstitial fibrosis
|
phenotype |
|
Disease or Syndrome
|
328
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Recurrent Childhood Glioblastoma
|
disease |
|
Neoplastic Process
|
51
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Axonal degeneration
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of peripheral nerve conduction
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Acute Coronary Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
440
|
139
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
9 |
2
|
2012 |
2017 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.050 |
None |
1.000 |
5 |
1
|
2012 |
2019 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.020 |
None |
1.000 |
2 |
2
|
2014 |
2019 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |