Bilateral microtia
Gene: ORC4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613800:Meier-Gorlin syndrome 2 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Dolichocephaly; Flat philtrum; Micrognathia; Mandibular hypoplasia; Microtia, bilateral; Simple ears; Small external auditory meatus; Hypoplastic nasal alae (slight); Small mouth; Respiratory problems; Tracheomalacia; Bronchomalacia; Breast hypoplasia; Feeding problems in early infancy; Gastroesophageal reflux; Hypoplastic labia majora, mild; Clitoromegaly; Delayed bone age; Slender long bones; Absent or hypoplastic patellae (in some patients); Hyperextensible joints, especially elbows and knees; Camptodactyly, distal interphalangeal, of second, third, and fourth fingers; Camptodactyly, proximal interphalangeal, of fifth fingers; High-pitched voice]
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 ORC4 were set to Bilateral Microtia; 613800
Publications for ORC4 were set to 21358631
Mode of inheritance for ORC4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ORC4 was added to Bilateral Microtiapanel. Sources: Expert list