Clinical Signs and Symptoms
ORPHA:444013 Combined oxidative phosphorylation defect type 23
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal basal ganglia MRI signal intensity HP:0012751
- Abnormal brainstem MRI signal intensity HP:0012747
- Abnormal thalamic MRI signal intensity HP:0012696
- Cognitive impairment HP:0100543
- Congestive heart failure HP:0001635
- Cyanosis HP:0000961
- Decreased activity of mitochondrial complex I HP:0011923
- Decreased activity of mitochondrial complex IV HP:0008347
- Easy fatigability HP:0003388
- Failure to thrive HP:0001508
- Feeding difficulties in infancy HP:0008872
- Global developmental delay HP:0001263
- Intellectual disability, mild HP:0001256
- Left ventricular hypertrophy HP:0001712
- Leukodystrophy HP:0002415
- Paroxysmal dyspnea HP:0012763
- Respiratory failure HP:0002878
- Right ventricular hypertrophy HP:0001667
- Seizures HP:0001250
- Severely reduced ejection fraction HP:0012666
- Stridor HP:0010307
- Visual impairment HP:0000505
- Wolff-Parkinson-White syndrome HP:0001716
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.