SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2012 |
2016 |
Birdshot chorioretinopathy
|
disease |
|
Disease or Syndrome
|
15
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2016 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.310 |
None |
1.000 |
2 |
|
2012 |
2016 |
HMSN Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Neuroaxonal Dystrophies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
1
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Infantile Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
25
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Autonomic neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
27
|
7
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
X-Linked, Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Adult Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Juvenile Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Late Infantile Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hallervorden-Spatz Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
22
|
42
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dysautonomia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
52
|
46
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|