Bilateral microtia
Gene: FGF3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#610706:Deafness, congenital with inner ear agenesis, microtia, and microdontia [Long face; Micrognathia; Microtia, type I; Deafness, profound congenital sensorineural; Michel aplasia (complete absence of inner ear structures); Labyrinthine aplasia; Anteverted ears; Microdontia; Widely spaced teeth; Conical teeth; Skin tags on the upper part of the auricle; Gross motor skill delay (infancy); Stenosis of the jugular foramen; Pontocerebellar arachnoid cyst (reported in 2 patients)]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
labyrinthine aplasia, microdontia, microtia
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Publications for FGF3 were set to 17236138
Phenotypes for FGF3 were set to 610706
Mode of inheritance for FGF3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FGF3 was added to Bilateral Microtiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
FGF3 was added to Bilateral Microtiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list