Progressive hearing loss stapes fixation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
35
|
0.750 |
strong |
1.000 |
9 |
17
|
1995 |
2014 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.420 |
strong |
1.000 |
3 |
3
|
1995 |
2009 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.340 |
definitive |
1.000 |
11 |
|
1995 |
2020 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Ayazi syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.130 |
None |
1.000 |
3 |
|
1989 |
2000 |
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Chorioretinal degeneration
|
disease |
Eye Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Upper Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
29
|
3
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Stapes ankylosis
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Visual acuity test abnormality
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cochlea morphology
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
Reticular pigmentary degeneration
|
disease |
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the Achilles tendon
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.100 |
None |
|
0 |
|
|
|
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dilatated internal auditory canal
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
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 |
|
|
|