developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.
Also known as: DEE119, RNU2-2 developmental and epileptic encephalopathy, RNU2-2 syndrome, developmental and epileptic encephalopathy 119.
Category: General
Symptoms associated with developmental and epileptic encephalopathy 119
The following symptoms have been associated with developmental and epileptic encephalopathy 119 in medical literature. Not everyone experiences the same symptoms.
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...
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Clonic seizure
A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly rep...
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....
Dry skin
Skin characterized by the lack of natural or normal moisture....
Dysphagia
Difficulty in swallowing....
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Febrile status epilepticus
A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater tha...
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 myoclonic seizure
A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contract...
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 myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Heat intolerance
The inability to maintain a comfortable body temperature in warm or hot weather....
Increased body weight
Abnormally increased body weight....
Isometric tremor
An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist...
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Periodic fever
Episodic fever that recurs at regular intervals....
Periorbital fullness
Increase in periorbital soft tissue....
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...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate developmental and epileptic encephalopathy 119
Healthcare providers may order these tests when evaluating developmental and epileptic encephalopathy 119. 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 developmental and epileptic encephalopathy 119, which is why a clinical evaluation is important.
Developmental and epileptic encephalopathy 122
Developmental and epileptic encephalopathy 122 is a medical condition that may be associated with various symp...
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
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...
developmental and epileptic encephalopathy 118
developmental and epileptic encephalopathy 118 is a medical condition that may be associated with various symp...
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
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 developmental and epileptic encephalopathy 119?
developmental and epileptic encephalopathy 119 is a health condition described in medical literature. A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.
What are the symptoms of developmental and epileptic encephalopathy 119?
developmental and epileptic encephalopathy 119 is associated with 30 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Constipation, Deeply set eye. Symptoms vary widely between individuals.
How is developmental and epileptic encephalopathy 119 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with developmental and epileptic encephalopathy 119 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 developmental and epileptic encephalopathy 119, please discuss your symptoms with a qualified healthcare provider.