Bilateral microtia
Gene: ORC6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613803:Meier-Gorlin syndrome 3 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Triangular face; Maxillary hypoplasia; Mandibular hypoplasia; Microretrognathia; Microtia, bilateral; Ears abnormally formed; Full lips; Small mouth; Pulmonary infections, recurrent; Dyspnea secondary to thorax morphology; Narrow chest; Short thorax; Short ribs; Lack of sternal ossification; Breast hypoplasia; Feeding problems in early infancy; Cryptorchidism; Hypoplastic scrotum; Hypertrophic clitoris; Delayed bone age; Frontal circular lacuna; Slender long bones; Abnormal humeral epiphyses with flat metaphyses; Abnormal femoral epiphyses with flat metaphyses; Abnormal tibial epiphyses; Coxa vara; Absent or hypoplastic patellae; Genu varum; Clinodactyly, fifth finger]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin EPS; causes syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for ORC6 were set to Bilateral Microtia;613803
Publications for ORC6 were set to 21358632
Mode of inheritance for ORC6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ORC6 was added to Bilateral Microtiapanel. Sources: Expert list