Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
1.000 |
definitive |
0.987 |
79 |
24
|
1998 |
2018 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.500 |
None |
1.000 |
37 |
1
|
1998 |
2016 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
8
|
0.300 |
definitive |
1.000 |
9 |
|
1998 |
2018 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
9 |
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.300 |
definitive |
1.000 |
9 |
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.400 |
definitive |
1.000 |
9 |
7
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
9 |
|
1998 |
2018 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
definitive |
1.000 |
9 |
|
1998 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
7 |
3
|
1998 |
2016 |
Hypertrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
92
|
27
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2013 |
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2016 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2001 |
2009 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.110 |
None |
1.000 |
2 |
1
|
2001 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.110 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Protein Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
125
|
2
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hypocupremia
|
disease |
|
Disease or Syndrome
|
23
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mixed sensory-motor polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Encephalopathy, Subacute Necrotizing, Infantile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |