Bilateral microtia
Gene: CDC6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613805:Meier-Gorlin syndrome 5 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Intrauterine growth retardation (IUGR); Failure to thrive; Microcephaly; Triangular face; Long philtrum; Maxillary hypoplasia; Mandibular hypoplasia; Micrognathia; Microtia, bilateral; Low-set ears; Absent helices, bilaterally; Hypoplastic lobules; Small external auditory meatus; Lips full; Palate cleft, submucous; Teeth small; Shoulder hypermobility; Gastroesophageal reflux in early infancy; Feeding problems in early infancy; Micropenis; Cryptorchidism; Delayed bone age; Prominent metopic suture; Slender long bones; Absent patellae; Elbow hypermobility; Elbow dislocation; Knee hypermobility; Hypoplastic and irregular femoral epiphyses; Hypoplastic and irregular tibial epiphyses; Clinodactyly, fifth fingers; Finger hypermobility; Clinodactyly, fifth toes; Psychomotor retardation, mild]
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).
Phenotypes for CDC6 were set to Bilateral Microtia; 613805
Publications for CDC6 were set to 21358632
Mode of inheritance for CDC6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CDC6 was added to Bilateral Microtiapanel. Sources: Expert list