CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Dialysis disequilibrium syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.050 |
None |
1.000 |
5 |
|
2008 |
2016 |
Macular Degeneration, Age-Related, 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
6
|
3
|
0.200 |
None |
1.000 |
2 |
|
2007 |
2008 |
Vascular Endothelial Growth Factor Measurement
|
phenotype |
|
Laboratory Procedure
|
12
|
46
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Retinal angiomatous proliferation
|
disease |
|
Disease or Syndrome
|
12
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Choroidal retinal neovascularization
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
14
|
1
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2015 |
Dysequilibrium syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.350 |
None |
1.000 |
6 |
|
2008 |
2016 |
Familial hypercholesterolemia - homozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
72
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Nonprogressive
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Classical Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
97
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Gambling, Pathological
|
disease |
Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
26
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nystagmus, End-Position
|
disease |
|
Disease or Syndrome
|
26
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pontoneocerebellar hypoplasia
|
disease |
|
Disease or Syndrome
|
27
|
10
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Subcortical Band Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
30
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
33
|
6
|
0.680 |
None |
1.000 |
10 |
6
|
2005 |
2018 |
Atherosclerosis of aorta
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Proliferative retinopathy
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
57
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.100 |
None |
|
0 |
|
|
|
Carotid Artery Diseases
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
69
|
6
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|