SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
3 |
4
|
2014 |
2016 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.400 |
None |
0.400 |
11 |
4
|
2004 |
2011 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2017 |
Lewy Body Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
255
|
41
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Nerve compression syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Wallerian Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Sciatic Neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
115
|
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Entrapment Neuropathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Infarction, Middle Cerebral Artery
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
145
|
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
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 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia of lower limbs
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Paraparesis, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
75
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Titubation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|