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.

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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


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

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


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