ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
5
|
0.740 |
None |
1.000 |
7 |
5
|
1999 |
2018 |
Congenital cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Nonprogressive cerebellar ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gangliosidosis GM1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
31
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-linked sideroblastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
16
|
23
|
0.070 |
None |
1.000 |
7 |
|
2000 |
2019 |
Ataxia, Motor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Tremor, Rubral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
11
|
0.430 |
None |
1.000 |
5 |
2
|
2001 |
2016 |
Microcytic hypochromic anemia (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Refractory anemia with ringed sideroblasts
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
36
|
3
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2013 |
Refractory anemia, without ringed sideroblasts, without excess blasts
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
38
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormal coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
4
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Clonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Primary infection NOS
|
disease |
|
Disease or Syndrome
|
65
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Ataxia, Appendicular
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Iron Overload
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
241
|
53
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2019 |