Bilateral microtia

Gene: GSC

Red List (low evidence)

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

• PMID:12116210
• 1677215
• 1684739
• 24290375
• 7555718
• 7916327
• 8597641
• 9144415
• 9475592

Green List (high evidence)

MIM 602471

Created: 3 Feb 2016, 8:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes SAMS syndrome; syndromic features

Publications

• 24290375