Bilateral microtia
Gene: PLCB4
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#614669:Auriculocondylar syndrome 2 [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, obstructive; Apnea, central (in some patients); 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 614669Created: 3 Feb 2016, 5:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Causes AURICULOCONDYLAR syndrome with microtia; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Publications for PLCB4 were set to 23315542
Phenotypes for PLCB4 were set to Bilateral Microtia;614669
Mode of inheritance for PLCB4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PLCB4 was added to Bilateral Microtiapanel. Sources: Expert list