Bilateral microtia

Gene: ORC6

Green List (high evidence)

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

• PMID:10945994
• 12169736
• 21358632
• 7710253

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin EPS; causes syndromic features

Publications

• 21358632