Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability syndrome due to a DYRK1A point mutation is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Intellectual disability syndrome due to a DYRK1A point mutation
The following symptoms have been associated with Intellectual disability syndrome due to a DYRK1A point mutation 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...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Simple febrile seizure
A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile e...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate Intellectual disability syndrome due to a DYRK1A point mutation
Healthcare providers may order these tests when evaluating Intellectual disability syndrome due to a DYRK1A point mutation. 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 syndrome due to a DYRK1A point mutation, which is why a clinical evaluation is important.
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome is a medical condition that may be associated with various sym...
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...
ReNU syndrome
ReNU syndrome is a medical condition that may be associated with various symptoms and signs....
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities is a medical condition that may b...
Frequently Asked Questions
What is Intellectual disability syndrome due to a DYRK1A point mutation?
Intellectual disability syndrome due to a DYRK1A point mutation is a health condition described in medical literature. Intellectual disability syndrome due to a DYRK1A point mutation is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Intellectual disability syndrome due to a DYRK1A point mutation?
Intellectual disability syndrome due to a DYRK1A point mutation is associated with 7 symptoms in the medical literature we index, including Anxiety, Deeply set eye, Failure to thrive, Gastroesophageal reflux, Seizure, Simple febrile seizure. Symptoms vary widely between individuals.
How is Intellectual disability syndrome due to a DYRK1A point mutation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Intellectual disability syndrome due to a DYRK1A point mutation 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 syndrome due to a DYRK1A point mutation, please discuss your symptoms with a qualified healthcare provider.