SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
3 |
4
|
2014 |
2018 |
Spinocerebellar Ataxia Type 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
78
|
2
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
64
|
11
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
7
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
|
0 |
|
|
|
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
76
|
3
|
0.300 |
None |
|
0 |
|
|
|
Spinocerebellar Ataxia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
102
|
4
|
0.300 |
None |
|
0 |
|
|
|
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 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nonprogressive
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Oculomotor apraxia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
92
|
14
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Nonprogressive cerebellar ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
|
|
|
Mild microcephaly
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the distal phalanx of the thumb
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|