intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.
Also known as: HIVEP2 autosomal dominant non-syndromic intellectual disability, MRD43, autosomal dominant intellectual disability 43, autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2, intellectual disability, autosomal dominant 43, intellectual disability, autosomal dominant type 43, mental retardation, autosomal dominant 43, mental retardation, autosomal dominant type 43, HIVEP2-related intellectual disability, autosomal dominant intellectual disability-43.
Category: General
Symptoms associated with intellectual disability, autosomal dominant 43
The following symptoms have been associated with intellectual disability, autosomal dominant 43 in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
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...
Gingival bleeding
Hemorrhage affecting the gingiva....
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Muscle weakness
Reduced strength of muscles....
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate intellectual disability, autosomal dominant 43
Healthcare providers may order these tests when evaluating intellectual disability, autosomal dominant 43. 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 43, 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....
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...
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 intellectual disability, autosomal dominant 43?
intellectual disability, autosomal dominant 43 is a health condition described in medical literature. Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.
What are the symptoms of intellectual disability, autosomal dominant 43?
intellectual disability, autosomal dominant 43 is associated with 18 symptoms in the medical literature we index, including Abdominal pain, Anxiety, Chronic constipation, Constipation, Dysphagia, Failure to thrive. Symptoms vary widely between individuals.
How is intellectual disability, autosomal dominant 43 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 43 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 43, please discuss your symptoms with a qualified healthcare provider.