Clinical Signs and Symptoms
ORPHA:477774 Combined oxidative phosphorylation defect type 27
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.
- Abnormality of the cerebral white matter HP:0002500
- Decreased activity of mitochondrial complex I HP:0011923
- Decreased activity of mitochondrial complex III HP:0011924
- Decreased activity of mitochondrial complex IV HP:0008347
- Developmental regression HP:0002376
- Diffuse cerebral atrophy HP:0002506
- Epileptic encephalopathy HP:0200134
- Generalized myoclonic seizures HP:0002123
- Global developmental delay HP:0001263
- Hearing impairment HP:0000365
- Increased serum lactate HP:0002151
- Intellectual disability HP:0001249
- Multifocal seizures HP:0031165
- Progressive visual loss HP:0000529
- Ragged-red muscle fibers HP:0003200
- Status epilepticus HP:0002133
- Tetraparesis HP:0002273
- Absent speech HP:0001344
- Autistic behavior HP:0000729
- Diffuse cerebellar atrophy HP:0100275
- Dysphagia HP:0002015
- EEG with periodic lateralized epileptiform discharges HP:0010853
- Hypoplasia of the corpus callosum HP:0002079
- Hypoplastic hippocampus HP:0025517
- Involuntary movements HP:0004305
- Nasogastric tube feeding HP:0040288
- Nonimmune hydrops fetalis HP:0001790
- Pain HP:0012531
- Upper limb postural tremor HP:0007351
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.