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.
Table of contents:
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.
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
Search interest in KCNQ5
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