Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
0.100
None
0
Anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
847
94
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Decreased activity of mitochondrial respiratory chain
phenotype
Finding
34
0.100
None
0
Decreased activity of the pyruvate dehydrogenase complex
phenotype
Finding
35
3
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
Focal T2 hyperintense basal ganglia lesion
phenotype
Finding
46
3
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
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
Hyperreflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
539
19
0.100
None
0
Hypertensive disease
group
Cardiovascular Diseases
Disease or Syndrome
2322
1085
0.010
None
1.000
1
2016
2016
Hypertrichosis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
92
27
0.100
None
0
Hypertrophic Cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
560
635
0.100
None
0
Increased CSF lactate
phenotype
Finding
87
1
0.100
None
0
Increased serum lactate
phenotype
Nutritional and Metabolic Diseases
Finding
169
2
0.100
None
0
Leigh Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
144
114
0.510
limited
1.000
7
2011
2017
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
limited
1.000
5
2011
2017
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
limited
1.000
5
2011
2017
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
limited
1.000
5
2011
2017
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
0.300
limited
1.000
5
2011
2017