SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
13
|
0.920 |
None |
1.000 |
12 |
13
|
2006 |
2018 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
16
|
0.510 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.400 |
None |
1.000 |
13 |
1
|
2006 |
2019 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
1.000 |
2 |
1
|
2008 |
2012 |
Paroxysmal atrial fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
226
|
8
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.300 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
familial atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
157
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Persistent atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.130 |
None |
1.000 |
3 |
3
|
2013 |
2018 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.100 |
None |
1.000 |
20 |
1
|
2006 |
2019 |
First dorsal interossei muscle atrophy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hammer Toe
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Thenar muscle weakness
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Cold-induced hand cramps
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Proximal lower limb amyotrophy
|
phenotype |
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal motor nerve conduction velocity
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|