mitochondrial complex IV deficiency, nuclear type 23
Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene.
Category: General
Symptoms associated with mitochondrial complex IV deficiency, nuclear type 23
The following symptoms have been associated with mitochondrial complex IV deficiency, nuclear type 23 in medical literature. Not everyone experiences the same symptoms.
Abdominal distention
Distention of the abdomen....
Clonic seizure
A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly rep...
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hypoventilation
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (...
Percussion myotonia
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate mitochondrial complex IV deficiency, nuclear type 23
Healthcare providers may order these tests when evaluating mitochondrial complex IV deficiency, nuclear type 23. 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 mitochondrial complex IV deficiency, nuclear type 23, which is why a clinical evaluation is important.
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial neurogastrointestinal encephalomyopathy is a medical condition that may be associated with vario...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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 mitochondrial complex IV deficiency, nuclear type 23?
mitochondrial complex IV deficiency, nuclear type 23 is a health condition described in medical literature. Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene.
What are the symptoms of mitochondrial complex IV deficiency, nuclear type 23?
mitochondrial complex IV deficiency, nuclear type 23 is associated with 7 symptoms in the medical literature we index, including Abdominal distention, Clonic seizure, Focal-onset seizure, Gastroesophageal reflux, Hypoventilation, Percussion myotonia. Symptoms vary widely between individuals.
How is mitochondrial complex IV deficiency, nuclear type 23 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial complex IV deficiency, nuclear type 23 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 mitochondrial complex IV deficiency, nuclear type 23, please discuss your symptoms with a qualified healthcare provider.