intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.
Also known as: GNB1-related disorder, GNB1-related neurodevelopmental disorder, MRD42, autosomal dominant intellectual disability 42, global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome, intellectual developmental disorder, autosomal dominant 42, intellectual disability, autosomal dominant 42, intellectual disability, autosomal dominant type 42, mental retardation, autosomal dominant 42, mental retardation, autosomal dominant type 42.
Category: General
Symptoms associated with intellectual disability, autosomal dominant 42
The following symptoms have been associated with intellectual disability, autosomal dominant 42 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...
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 hemiclonic seizure
A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the bo...
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 ...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Lower limb muscle weakness
Weakness of the muscles of the legs....
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 ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Tests used to investigate intellectual disability, autosomal dominant 42
Healthcare providers may order these tests when evaluating intellectual disability, autosomal dominant 42. 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 42, which is why a clinical evaluation is important.
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
developmental delay with or without epilepsy
developmental delay with or without epilepsy is a medical condition that may be associated with various sympto...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
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 42?
intellectual disability, autosomal dominant 42 is a health condition described in medical literature. Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.
What are the symptoms of intellectual disability, autosomal dominant 42?
intellectual disability, autosomal dominant 42 is associated with 17 symptoms in the medical literature we index, including Anxiety, Atonic seizure, Bilateral tonic-clonic seizure, Dysphagia, Failure to thrive, Febrile convulsion. Symptoms vary widely between individuals.
How is intellectual disability, autosomal dominant 42 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 42 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 42, please discuss your symptoms with a qualified healthcare provider.