Clinical Guidance

The small number of published cases to date limits the statistical power for evaluating genotype-phenotype correlations. A possible genotype-phenotype correlation is the observation that the greater the decrease in total kinase activity the more severe the phenotype .

Source: GeneReviews — "CDK13-Related Disorder"

Penetrance

Penetrance based on 43 individuals reported to date appears to be complete: all reported variants have been de novo and no unaffected individuals with a CDK13 pathogenic variant have been reported.

Source: GeneReviews — "CDK13-Related Disorder"

Diagnostic Criteria

No formal clinical diagnostic criteria for CDK13 disorder have been published.

Suggestive Findings

CDK13 disorder should be considered in individuals with the following clinical and brain MRI findings.

Clinical findings

• Developmental delay / intellectual disability

• Structural cardiac defects

• Atrial septal defects

• Ventricular septal defects

• Pulmonary valve abnormalities

• Hypoplastic pulmonary artery

• Suggestive facial dysmorphisms (See .)

Brain MRI. Nonspecific findings in 15 individuals included the following:

• Agenesis/hypogenesis of the corpus callosum (5 individuals)

• Aplasia of the cerebellar vermis

• Periventricular leukomalacia or periventricular gliosis (3)

• Spinal cord syrinx (2)

• Cerebellar tonsillar abnormalities (2)

• Diminished white matter volume (1)

Establishing the Diagnosis

The diagnosis of ...

Source: GeneReviews — "CDK13-Related Disorder"

Differential Diagnosis

Table 2. Disorders with Developmental Delay / Intellectual Disability and other Anomalies to Consider in the Differential Diagnosis of CDK13-Related Disorder

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CDK13 disorder, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations for CDK13 Disorder Following Initial Diagnosis

Source: GeneReviews — "CDK13-Related Disorder"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "CDK13-Related Disorder"

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with CDK13-Related Disorder

Source: GeneReviews — "CDK13-Related Disorder"