intellectual disability, autosomal dominant 54
intellectual disability, autosomal dominant 54 is a medical condition that may be associated with various symptoms and signs.
Also known as: intellectual disability, autosomal dominant 54, MRD54, autosomal dominant mental retardation 54, mental retardation, autosomal dominant 54.
Category: General
Symptoms associated with intellectual disability, autosomal dominant 54
The following symptoms have been associated with intellectual disability, autosomal dominant 54 in medical literature. Not everyone experiences the same symptoms.
Atonic seizure
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without ...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dry skin
Skin characterized by the lack of natural or normal moisture....
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...
Poor appetite
A reduced desire to eat....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate intellectual disability, autosomal dominant 54
Healthcare providers may order these tests when evaluating intellectual disability, autosomal dominant 54. 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 intellectual disability, autosomal dominant 54, which is why a clinical evaluation is important.
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
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...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities is a m...
neurodevelopmental disorder with hypotonia and dysmorphic facies
neurodevelopmental disorder with hypotonia and dysmorphic facies is a medical condition that may be associated...
Frequently Asked Questions
What is intellectual disability, autosomal dominant 54?
intellectual disability, autosomal dominant 54 is a health condition described in medical literature. intellectual disability, autosomal dominant 54 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of intellectual disability, autosomal dominant 54?
intellectual disability, autosomal dominant 54 is associated with 9 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Chronic constipation, Deeply set eye, Dry skin, Focal impaired awareness seizure. Symptoms vary widely between individuals.
How is intellectual disability, autosomal dominant 54 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with intellectual disability, autosomal dominant 54 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 intellectual disability, autosomal dominant 54, please discuss your symptoms with a qualified healthcare provider.