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
Search interest in ARHGEF2
Potential gene panels for ARHGEF2 gene
Choreatic Movement Disorders Panel Panel
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 panelARHGEF2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARHGEF2 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 DSG2-AS1 COL1A2 SMPX SLC6A2 TCHH GFER KRT25