KCNAB2 gene related symptoms and diseases

All the information presented here about the KCNAB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNAB2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Slender long bone Very Common - Between 80% and 100% cases
Metatarsus adductus Very Common - Between 80% and 100% cases
Delayed cranial suture closure Very Common - Between 80% and 100% cases
Dysphasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KCNAB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypermelanotic macule
  • Polyphagia
  • Macule
  • High hypermetropia
  • Infantile spasms
  • Abnormal heart valve morphology
  • Abnormality of the immune system
  • Absent septum pellucidum

And 235 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to KCNAB2 gene

Here you will find a list of rare diseases related to the KCNAB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


1P36 DELETION SYNDROME


Alternate names

1P36 DELETION SYNDROME Is also known as del(1)(p36), monosomy 1p36, monosomy 1pter, deletion 1pter, deletion 1p36, monosomy 1p36 syndrome, subtelomeric 1p36 deletion

Description

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

Most common symptoms of 1P36 DELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about 1P36 DELETION SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for KCNAB2 gene

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

KCNAB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNAB2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TMEM173 DAXX SON EBF3 SCN9A POFUT1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more