Mandibulofacial Acrofacial dysostosis
Gene: GNAI3
In a literature review of 14 patients, Storm et al. (2005) reported the most common clinical signs of (Auriculocondylar syndrome) ARCND: abnormalities of the TMJ/condyle (100%), ear constriction (96.8%), micrognathia (71%), abnormal palate (62.5%), prominent cheeks (57.1%), microstomia (51.9%), glossoptosis (45.5%), respiratory distress (36.4%), stenotic ear canals (30%), and hearing loss (21%).Created: 31 Jul 2021, 6:04 a.m. | Last Modified: 31 Jul 2021, 6:04 a.m.
Panel Version: 0.43
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Auriculocondylar syndrome 1, OMIM #602483
Publications
Gene: gnai3 has been classified as Green List (High Evidence).
Phenotypes for gene: GNAI3 were changed from to Auriculocondylar syndrome 1, OMIM #602483
Publications for gene: GNAI3 were set to
Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: GNAI3 was added gene: GNAI3 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAI3 was set to Unknown