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 characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity
Also known as: RNU5B-1-related disorder, NEDSJL, RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, neurodevelopmental disorder with seizures and joint laxity.
Category: General
Symptoms associated with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
The following symptoms have been associated with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity in medical literature. Not everyone experiences the same symptoms.
Bilateral sensorineural hearing impairment
A form of sensorineural hearing impairment that affects both ears....
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Bruising susceptibility
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ru...
Clonic seizure
A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly rep...
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
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....
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 ...
Fever
Body temperature elevated above the normal range....
Focal clonic seizure
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is r...
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...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Insomnia
Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adeq...
Nocturnal seizures
Seizures that occur while the affected individual is sleeping....
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...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
Healthcare providers may order these tests when evaluating RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity. 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 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, 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....
Sotos syndrome
Sotos 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 and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
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...
Frequently Asked Questions
What is RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity?
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity is a health condition described in medical literature. A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity
What are the symptoms of RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity?
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity is associated with 22 symptoms in the medical literature we index, including Bilateral sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bruising susceptibility, Clonic seizure, Conductive hearing impairment, Constipation. Symptoms vary widely between individuals.
How is RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity 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 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, please discuss your symptoms with a qualified healthcare provider.