ARHGEF2 gene related symptoms and diseases

All the information presented here about the ARHGEF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ARHGEF2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Astigmatism Very Common - Between 80% and 100% cases
Congenital microcephaly Very Common - Between 80% and 100% cases
Hypoplasia of the pons Very Common - Between 80% and 100% cases
Mild microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARHGEF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of visual evoked potentials
  • Amblyopia
  • Long eyelashes
  • Frequent falls
  • Low posterior hairline
  • Optic disc pallor
  • Wide intermamillary distance
  • Pallor

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ARHGEF2 gene

Here you will find a list of rare diseases related to the ARHGEF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM

Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


More info about NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM

SOURCES: OMIM


Potential gene panels for ARHGEF2 gene

Choreatic Movement Disorders Panel Panel

Germany.

By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72

More info about this panel
Germany.

ARHGEF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARHGEF2 gene.

More info about this panel
United States.

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