Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to 9q34 microdeletion is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Kleefstra syndrome due to 9q34 microdeletion
The following symptoms have been associated with Kleefstra syndrome due to 9q34 microdeletion in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate Kleefstra syndrome due to 9q34 microdeletion
Healthcare providers may order these tests when evaluating Kleefstra syndrome due to 9q34 microdeletion. 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 Kleefstra syndrome due to 9q34 microdeletion, which is why a clinical evaluation is important.
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intellectual developmental disorder, autosomal dominant 77
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intellectual disability, autosomal dominant 42
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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 Kleefstra syndrome due to 9q34 microdeletion?
Kleefstra syndrome due to 9q34 microdeletion is a health condition described in medical literature. Kleefstra syndrome due to 9q34 microdeletion is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Kleefstra syndrome due to 9q34 microdeletion?
Kleefstra syndrome due to 9q34 microdeletion is associated with 8 symptoms in the medical literature we index, including Anxiety, Depression, Epileptic spasm, Failure to thrive, Generalized non-motor (absence) seizure, Hearing impairment. Symptoms vary widely between individuals.
How is Kleefstra syndrome due to 9q34 microdeletion diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Kleefstra syndrome due to 9q34 microdeletion 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 Kleefstra syndrome due to 9q34 microdeletion, please discuss your symptoms with a qualified healthcare provider.