MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.600 |
None |
1.000 |
2 |
4
|
2016 |
2018 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.310 |
moderate |
1.000 |
1 |
|
2018 |
2018 |
Arsenic Encephalopathy
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
62
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Arsenic Poisoning, Inorganic
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
62
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Nervous System, Organic Arsenic Poisoning
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
62
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Arsenic Poisoning
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
64
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Arsenic Induced Polyneuropathy
|
disease |
Nervous System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
62
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Acute kidney injury
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Injury or Poisoning
|
185
|
3
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Fluctuations in consciousness
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brainstem morphology
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiac conduction abnormality
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Limited extraocular movements
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
|
|
|
Elevated brain lactate level by MRS
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|