Monogenic hearing loss
Gene: SOX9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#114290:Campomelic dysplasia with autosomal sex reversal[Short limb dwarfism, prenatal onsetBirth length 35-49 cm; Failure to thrive in survivors; Large anterior fontanelleMacrocephaly; High foreheadFlat, small faceMicrognathia; Low-set earsHearing loss; HypertelorismShort palpebral fissures; Depressed nasal root; Cleft palate; Congenital heart defects; Tracheobronchomalacia; Respiratory distressApnea; Small thoracic cage; Hypoplastic scapulaeSlender ribsAbsent sternal mineralization11 pairs of ribs; Sex reversal in some katyotypic males (ovarian, mullerian duct, and vaginal development in XY individuals); Hydronephrosis; Enlarged and elongated skull; Hypoplastic, poorly ossified cervical vertebraeKyphoscoliosisNon mineralized thoracic pedicles; Small iliac wingsRelatively wide pelvic outletDislocated hips; Short phalanges both hands and feetTalipes equinovarusAnterior bowing of tibiaShort fibulaMildly bowed femurAbsent ossification of proximal tibial, and distal femoral epiphysis; Cutaneous dimpling over bowed tibia; HypotoniaAbsent olfactory tract or bulbsHydrocephalus]
Publications
SOX9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert