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.

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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


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

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


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