3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.720 |
None |
1.000 |
10 |
9
|
2006 |
2019 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
|
disease |
|
Disease or Syndrome
|
4
|
|
0.360 |
None |
1.000 |
9 |
|
2006 |
2018 |
Lipoprotein (a) measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
103
|
0.100 |
None |
1.000 |
2 |
2
|
2015 |
2015 |
Lesions in the basal ganglia
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2006 |
2016 |
Mitochondrial hepatopathy
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
|
0 |
1
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.170 |
None |
1.000 |
7 |
|
2012 |
2019 |
Lipid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
3-Methylglutaric aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2018 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
|
|
|
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.400 |
strong |
1.000 |
1 |
|
2016 |
2016 |