Brown-Vialetto-Van Laere Syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
29
|
0.800 |
definitive |
0.957 |
23 |
26
|
2010 |
2019 |
Fazio-Londe Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.510 |
None |
1.000 |
2 |
|
2010 |
2012 |
Bulbar palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
5
|
0.410 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.400 |
None |
0.923 |
13 |
4
|
2010 |
2019 |
Progressive bulbar palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
10
|
1
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Progressive Bulbar Palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Esophageal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1254
|
270
|
0.130 |
None |
0.750 |
4 |
2
|
2010 |
2018 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Brown-Vialetto-Van Laere syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.100 |
None |
0.938 |
16 |
2
|
2012 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
2
|
2012 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
5 |
2
|
2012 |
2016 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
1
|
|
|
External Ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
Voice Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Ankle clonus
|
phenotype |
|
Finding
|
32
|
5
|
0.100 |
None |
|
0 |
|
|
|
Fasciculation, Tongue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
7
|
0.100 |
None |
|
0 |
|
|
|
Myopathic facies
|
phenotype |
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hand muscle atrophy
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neck muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|