SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2015 |
2018 |
Abnormal lower-limb motor evoked potentials
|
phenotype |
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive pes cavus
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Spastic paraplegia 10, autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Degeneration of the lateral corticospinal tracts
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Urgency of micturition
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Spastic gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
|
disease |
|
Finding
|
82
|
141
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
|
disease |
|
Disease or Syndrome
|
82
|
142
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
|
disease |
|
Disease or Syndrome
|
82
|
132
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.100 |
None |
|
0 |
|
|
|
Urinary Incontinence
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
151
|
14
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
|
|
|
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |