WDR26 gene related symptoms and diseases
All the information presented here about the WDR26 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WDR26 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Coarse facial features | Very Common - Between 80% and 100% cases |
| Hyperplasia of the maxilla | Very Common - Between 80% and 100% cases |
| Sparse lateral eyebrow | Very Common - Between 80% and 100% cases |
| Thick upper lip vermilion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with WDR26 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Delayed ability to walk
- Widely spaced teeth
- Spastic gait
- Amblyopia
- Pachygyria
- Broad-based gait
- Recurrent otitis media
- Otitis media
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WDR26 gene
Here you will find a list of rare diseases related to the WDR26. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME
Alternate names
INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, skraban-deardorff syndrome
Description
Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).
Most common symptoms of INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Micrognathia
More info about INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME
Search interest in WDR26
Potential gene panels for WDR26 gene
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panel United States.
Skraban-Deardorff syndrome Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the WDR26 gene.
More info about this panel United States.
Skraban-Deardorff syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the WDR26 gene.
More info about this panel United States.
Skraban-Deardorff syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the WDR26 gene.
More info about this panel United States.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCARE CLEC12B KARS REEP1 MIPEP AUTS2 FLRT1