DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
The following symptoms have been associated with DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 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...
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...
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....
Dysphagia
Difficulty in swallowing....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Tests used to investigate DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Healthcare providers may order these tests when evaluating DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 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 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion, which is why a clinical evaluation is important.
Angelman syndrome
Angelman syndrome is a medical condition that may be associated with various symptoms and signs....
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a medica...
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 ...
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition th...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
Frequently Asked Questions
What is DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a health condition described in medical literature. DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is associated with 13 symptoms in the medical literature we index, including Anxiety, Atonic seizure, Bilateral tonic-clonic seizure, Constipation, Deeply set eye, Dysphagia. Symptoms vary widely between individuals.
How is DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 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 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion, please discuss your symptoms with a qualified healthcare provider.