X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
The following symptoms have been associated with X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
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 tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
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....
Tests used to investigate X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Healthcare providers may order these tests when evaluating X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome. 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 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, 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 ...
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
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 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...
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 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome?
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is a health condition described in medical literature. X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome?
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Febrile convulsion, Focal-onset seizure, Gastroesophageal reflux, Generalized tonic seizure, Seizure. Symptoms vary widely between individuals.
How is X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 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 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, please discuss your symptoms with a qualified healthcare provider.