Bilateral microtia
Gene: CDT1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613804:Meier-Gorlin syndrome 4 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Intrauterine growth retardation (IUGR); Failure to thrive; Microcephaly; Microtia; Low-set ears; Abnormally formed ears; Small mouth; Full lips; Maxillary hypoplasia; Mandibular hypoplasia; Respiratory problems; Emphysema, congenital; Hook-shaped clavicles; Abnormal glenoid fossa; Breast hypoplasia; Feeding difficulties in early infancy; Cryptorchidism; Delayed bone age; Slender long bones; Absent patellae; Genu recurvatum; No mental retardation; Intellect high (in some patients)]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Meier-Gorlin EPS; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CDT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Phenotypes for CDT1 were set to Bilateral Microtia; 613804
Publications for CDT1 were set to 21358632
CDT1 was added to Bilateral Microtiapanel. Sources: Expert list