SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
3 |
8
|
2004 |
2018 |
Hypometric saccades
|
phenotype |
|
Finding
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Head titubation
|
phenotype |
|
Sign or Symptom
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal involuntary eye movements
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2020 |
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
518
|
138
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
oligodendroglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
282
|
21
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Well Differentiated Oligodendroglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
270
|
22
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2113
|
316
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2130
|
281
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2104
|
309
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1018
|
204
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |