Kabuki syndrome 1
Kabuki syndrome 1 is a medical condition that may be associated with various symptoms and signs.
Also known as: Kabuki syndrome 1, Kabuki syndrome type 1, KABUK1.
Category: General
Symptoms associated with Kabuki syndrome 1
The following symptoms have been associated with Kabuki syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
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 ...
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 Kabuki syndrome 1
Healthcare providers may order these tests when evaluating Kabuki syndrome 1. 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 Kabuki syndrome 1, which is why a clinical evaluation is important.
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
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...
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
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...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is Kabuki syndrome 1?
Kabuki syndrome 1 is a health condition described in medical literature. Kabuki syndrome 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Kabuki syndrome 1?
Kabuki syndrome 1 is associated with 6 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Gastroesophageal reflux, Hearing impairment, Seizure, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is Kabuki syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Kabuki syndrome 1 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 Kabuki syndrome 1, please discuss your symptoms with a qualified healthcare provider.