Combined Oxidative Phosphorylation Deficiency 2
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
2
1
0.700
moderate
1.000
4
1
2004
2015
Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
0.100
None
0
Feeding difficulties in infancy
phenotype
Finding
305
22
0.100
None
0
Neonatal Hypotonia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
169
45
0.100
None
0
Elevated hepatic transaminase
phenotype
Finding
212
9
0.100
None
0
Redundant neck skin
phenotype
Finding
16
3
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
Dysmorphic facies
phenotype
Finding
271
106
0.100
None
0
Small for gestational age fetus
phenotype
Pathological Conditions, Signs and Symptoms
Finding
156
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Small for gestational age (disorder)
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
Finding
181
34
0.100
None
0
Brachydactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
325
43
0.100
None
0
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.100
None
0
Hypokinesia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
47
2
0.100
None
0
Lethargy
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Sign or Symptom
160
6
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Patent ductus arteriosus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
510
56
0.100
None
0
Dilated ventricles (finding)
phenotype
Finding
427
32
0.100
None
0