EBF3 gene related symptoms and diseases
All the information presented here about the EBF3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EBF3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Apraxia | Very Common - Between 80% and 100% cases |
| Neurological speech impairment | Very Common - Between 80% and 100% cases |
| Synophrys | Very Common - Between 80% and 100% cases |
| Astigmatism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EBF3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysmetria
- Long face
- Downturned corners of mouth
- Triangular face
- Broad nasal tip
- Vesicoureteral reflux
- Delayed myelination
- Decreased fetal movement
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EBF3 gene
Here you will find a list of rare diseases related to the EBF3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
Description
Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).
Most common symptoms of HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
SOURCES: OMIM
Search interest in EBF3
Potential gene panels for EBF3 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
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