CDK13-related disorder
CDK13-related disorder (pronunciation: /siːdiːkeɪˈθɜːrtiːn rɪˈleɪtɪd dɪsˈɔːrdər/) is a rare genetic condition that affects multiple systems in the body. The disorder is caused by mutations in the CDK13 gene.
Etymology
The term "CDK13-related disorder" is derived from the name of the gene that is mutated in this condition. CDK13 stands for "Cyclin-Dependent Kinase 13", a type of protein that plays a crucial role in cell division and growth.
Symptoms
Symptoms of CDK13-related disorder can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, and distinctive facial features. Some individuals may also have heart defects, seizures, and abnormalities of the hands and feet.
Diagnosis
Diagnosis of CDK13-related disorder is based on clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm the diagnosis.
Treatment
Treatment of CDK13-related disorder is symptomatic and supportive. It may include physical therapy, special education, and medications to manage seizures and other symptoms.
Prognosis
The prognosis for individuals with CDK13-related disorder varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with this disorder can lead fulfilling lives.
See also
External links
- Medical encyclopedia article on CDK13-related disorder
- Wikipedia's article - CDK13-related disorder
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