GNAI3 gene related symptoms and diseases
All the information presented here about the GNAI3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNAI3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Anterior open-bite malocclusion | Very Common - Between 80% and 100% cases |
| Glossoptosis | Very Common - Between 80% and 100% cases |
| Ankylosis | Very Common - Between 80% and 100% cases |
| Obstructive sleep apnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GNAI3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microglossia
- Stenosis of the external auditory canal
- Impaired mastication
- Hamartoma of tongue
- Snoring
- Difficulty in tongue movements
- Speech articulation difficulties
- Overfolding of the superior helices
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNAI3 gene
Here you will find a list of rare diseases related to the GNAI3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AURICULOCONDYLAR SYNDROME
Alternate names
AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome, question mark ears syndrome
Description
Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
Most common symptoms of AURICULOCONDYLAR SYNDROME
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
More info about AURICULOCONDYLAR SYNDROME
Search interest in GNAI3
Potential gene panels for GNAI3 gene
Auricularcondylar Syndrome 1 - GNAI3 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the GNAI3 gene.
More info about this panel United States.
Auriculocondylar syndrome type 1 (sequence analysis of GNAI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAI3 gene.
More info about this panel Portugal.
Auriculocondylar syndrome type 1 (sequence analysis of GNAI3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAI3 gene.
More info about this panel Portugal.
Auriculocondylar syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GNAI3 gene.
More info about this panel Germany.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
GNAI3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNAI3 gene.
More info about this panel United States.
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