SPINOCEREBELLAR ATAXIA, X-LINKED 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
X-linked non progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Aldosterone-Producing Adrenal Cortex Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2
|
6
|
0.100 |
None |
|
0 |
3
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Niemann-Pick Disease, Type A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
98
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Nonprogressive cerebellar ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebral cortex
|
disease |
|
Anatomical Abnormality
|
11
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Ataxic
|
phenotype |
|
Sign or Symptom
|
15
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial Hyperaldosteronism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Generalized neonatal hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Difficulty standing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
21
|
14
|
0.100 |
None |
|
0 |
|
|
|
Secondary hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Saccadic smooth pursuit
|
phenotype |
|
Finding
|
22
|
5
|
0.100 |
None |
|
0 |
|
|
|
Familial benign hypercalcemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
24
|
35
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Nonprogressive
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Nociceptive Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Slowed saccades
|
phenotype |
|
Finding
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Adenoma, Monomorphic
|
disease |
Neoplasms
|
Neoplastic Process
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Adenoma, Trabecular
|
disease |
Neoplasms
|
Neoplastic Process
|
37
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Papillary adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Oropharyngeal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
43
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Adenoma, Microcystic
|
disease |
Neoplasms
|
Neoplastic Process
|
45
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |