CDKL5-deficiency disorder
CDKL5-deficiency disorder is a medical condition that may be associated with various symptoms and signs.
Category: General
Drugs labeled for CDKL5-deficiency disorder
1 medication ingredients list an association with cdkl5-deficiency disorder in current FDA labeling.
Symptoms associated with CDKL5-deficiency disorder
The following symptoms have been associated with CDKL5-deficiency disorder in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Constipation
Infrequent or difficult evacuation of feces....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
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...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Tests used to investigate CDKL5-deficiency disorder
Healthcare providers may order these tests when evaluating CDKL5-deficiency disorder. 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 CDKL5-deficiency disorder, 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....
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...
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...
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
Frequently Asked Questions
What is CDKL5-deficiency disorder?
CDKL5-deficiency disorder is a health condition described in medical literature. CDKL5-deficiency disorder is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of CDKL5-deficiency disorder?
CDKL5-deficiency disorder is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Constipation, Deeply set eye, Focal-onset seizure, Gastroesophageal reflux, Generalized tonic seizure. Symptoms vary widely between individuals.
How is CDKL5-deficiency disorder diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with CDKL5-deficiency disorder 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 CDKL5-deficiency disorder, please discuss your symptoms with a qualified healthcare provider.