CDK13 gene related symptoms and diseases
All the information presented here about the CDK13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDK13 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Agenesis of corpus callosum | Very Common - Between 80% and 100% cases |
| Small cerebral cortex | Very Common - Between 80% and 100% cases |
| Periventricular leukomalacia | Very Common - Between 80% and 100% cases |
| Mild microcephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDK13 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Delayed ability to walk
- Curly hair
- Abnormality of digit
- Joint hypermobility
- Short philtrum
- Camptodactyly
- Telecanthus
- Thin upper lip vermilion
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDK13 gene
Here you will find a list of rare diseases related to the CDK13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD
Most common symptoms of CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD
SOURCES: OMIM
Search interest in CDK13
Potential gene panels for CDK13 gene
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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