Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 27 is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Combined oxidative phosphorylation defect type 27
The following symptoms have been associated with Combined oxidative phosphorylation defect type 27 in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Multifocal seizures
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)....
Pain
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described...
Progressive visual loss
A reduction of previously attained ability to see....
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Upper limb postural tremor
A type of tremors that is triggered by holding an arm in a fixed position....
Tests used to investigate Combined oxidative phosphorylation defect type 27
Healthcare providers may order these tests when evaluating Combined oxidative phosphorylation defect type 27. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Combined oxidative phosphorylation defect type 27, which is why a clinical evaluation is important.
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the diseas...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Combined oxidative phosphorylation defect type 27?
Combined oxidative phosphorylation defect type 27 is a health condition described in medical literature. Combined oxidative phosphorylation defect type 27 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Combined oxidative phosphorylation defect type 27?
Combined oxidative phosphorylation defect type 27 is associated with 8 symptoms in the medical literature we index, including Dysphagia, Generalized myoclonic seizure, Hearing impairment, Multifocal seizures, Pain, Progressive visual loss. Symptoms vary widely between individuals.
How is Combined oxidative phosphorylation defect type 27 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Combined oxidative phosphorylation defect type 27 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Combined oxidative phosphorylation defect type 27, please discuss your symptoms with a qualified healthcare provider.