Bilateral microtia

Gene: CDC6

Green List (high evidence)

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

• PMID:10629059
• 11477602
• 12384698
• 12384699
• 15496876
• 16572177
• 8990175
• 9520412
• 9566895

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Meier-Gorlin EPS; syndromic features

Publications

• 21358632