SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
3
|
4
|
0.610 |
None |
1.000 |
3 |
4
|
2011 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.410 |
None |
1.000 |
1 |
|
2015 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
None |
1.000 |
1 |
|
2015 |
2015 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Severe intellectual disability and progressive spastic paraplegia
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cerebral Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
241
|
69
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
11 |
1
|
2009 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
11 |
2
|
2009 |
2017 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Genu recurvatum
|
disease |
|
Anatomical Abnormality
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Generalized joint laxity
|
phenotype |
|
Finding
|
44
|
6
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|