Bilateral microtia
Gene: GNAI3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#602483:Auriculocondylar syndrome 1 [Macrocephaly (25%); Micrognathia; Round facial appearance; Prominent cheeks; Malformed ears; Auricular clefts; Cleft at the junction of the lobule and helix; Lobule may be separately from the rest of the external ear; Cleft at the superior portion of the pinna; Cupped pinna; Overfolding of the superior helices; Underdeveloped superior helices; Pre- and post-auricular skin or cartilaginous tags; Low-set ears; Posteriorly rotated ears; Stenotic ear canals (30%); Ear constriction (97%); Microstomia (52%); Glossoptosis (46%); Abnormal palate (63%); Cleft palate; Mastication difficulties; Speech articulation difficulties; Crowded teeth; Malocclusion; Open anterior bite; Posterior crossbite; Respiratory difficulties due to orofacial malformations (36%); Apnea; Snoring; Mandibular condyle hypoplasia; Mandibular condyle aplasia; Mandibular agenesis; Asymmetric mandible; Short mandibular rami; Small mandibular coronoid processes; Temporomandibular joint abnormalities; Ankylosis of the temporomandibular joints]
Publications
MIM 602483Created: 3 Feb 2016, 5:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Causes AURICULOCONDYLAR syndrome with microtia; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GNAI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for GNAI3 were set to 22560091
Phenotypes for GNAI3 were set to Bilateral Microtia; 602483
This gene has been classified as Green List (High Evidence).
GNAI3 was added to Bilateral Microtiapanel. Sources: Expert list