DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
8
|
0.100 |
None |
1.000 |
7 |
5
|
1999 |
2010 |
Palmoplantar Keratoderma with Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
27
|
0.300 |
None |
1.000 |
2 |
|
1998 |
2000 |
DEAFNESS, AMINOGLYCOSIDE-INDUCED
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.300 |
None |
|
0 |
|
|
|
MERRF/MELAS OVERLAP SYNDROME
|
disease |
|
Disease or Syndrome
|
5
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle abnormality related to mitochondrial dysfunction
|
phenotype |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Pediculus capitis infestation
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
|
0.500 |
None |
1.000 |
1 |
|
2013 |
2013 |
Increased hepatocellular lipid droplets
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Restrictive deficit on pulmonary function testing
|
phenotype |
Respiratory Tract Diseases
|
Disease or Syndrome
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sinus Thrombosis, Intracranial
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
17
|
5
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abnormality of mitochondrial metabolism
|
phenotype |
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tubulointerstitial abnormality
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Cytochrome C oxidase-negative muscle fibers
|
phenotype |
|
Finding
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Stroke-like episode
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased intramyocellular lipid droplets
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive proximal muscle weakness
|
phenotype |
|
Finding
|
28
|
3
|
0.100 |
None |
|
0 |
|
|
|
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal macular morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Anatomical Abnormality
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Psychotic episodes
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Spontaneous hematomas
|
disease |
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|