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.
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
Search interest in KCNAB2
Potential gene panels for KCNAB2 gene
Comprehensive Epilepsy NGS Panel Panel
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 panelKCNAB2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNAB2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ERCC3 APOL1 IKBKG KIDINS220 TGIF1