Bilateral microtia
Gene: GSC
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#602471:Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [Short stature; Malar hypoplasia; Micrognathia; Mandibular hypoplasia; Atretic external auditory canal; Abnormal middle ear ossicles; Hearing loss, conductive; Preauricular pits; Dysplastic pinnae; Deep-set eyes; Hypotelorism; Downslanting palpebral fissures; Small mouth; High-arched palate; Humero-scapulo synostosis; Scapular hypoplasia; Shortening of the clavicles; Feeding difficulties; Lack of testes; Lack of scrotal sac; Cryptorchidism; Contractures; Mandibular hypoplasia; Delayed ossification of pubic rami; Hip dislocation; Narrow sacrosciatic notches; Absence of pubic bones; Rhizomelic shortening; Bilateral humeral hypoplasia; Radial head dislocation; Clubfoot; Normal intelligence]
Publications
MIM 602471Created: 3 Feb 2016, 8:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes SAMS syndrome; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Publications for GSC were set to 24290375
Mode of inheritance for GSC was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for GSC were set to Bilateral Microtia; 602471
This gene has been classified as Green List (High Evidence).
GSC was added to Bilateral Microtiapanel. Sources: Expert list