KCNQ5 gene related symptoms and diseases

All the information presented here about the KCNQ5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KCNQ5 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KCNQ5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cerebral atrophy
  • Absent speech
  • Encephalopathy
  • Gait ataxia
  • Muscular hypotonia of the trunk
  • Unsteady gait
  • Epileptic encephalopathy
  • Hypsarrhythmia

And 1 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 KCNQ5 gene

Here you will find a list of rare diseases related to the KCNQ5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

SOURCES: OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ARHGEF2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more