Bilateral microtia
Gene: EFTUD2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#610536:Mandibulofacial dysostosis, Guion-Almeida type [Short stature (of varying degrees); Microcephaly, progressive (-3 to 6 SD); Trigonocephaly; Midface hypoplasia; Malar hypoplasia; Prominent philtrum; Micrognathia; Buccal tags; Microtia; Preauricular skin tags; External auditory meatus atresia; Low-set ears; Overfolded helices; Hypoplasia of the upper part of the helix; Dysplastic ears; Conductive hearing loss; Upslanting palpebral fissures; Downslanting palpebral fissures; Epicanthal folds; Telecanthus; Choanal atresia (in some patients); Upturned nose; Short nose; Anteverted nares; Cleft palate (in some patients); Atrial septal defect; Ventricular septal defect (in some patients); Breathing difficulties due to choanal atresia; Esophageal atresia (in some patients); Feeding problems; Preaxial polydactyly; Slender fingers; Proximally placed thumbs (in some patients); Delayed psychomotor development; Severe speech delay; Seizures (in some patients)]
Publications
Phenotypes
610536
Publications
Variants in this GENE are reported as part of current diagnostic practice
MIM 603892Created: 3 Feb 2016, 4:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations
Publications
This gene has been classified as Green List (High Evidence).
Publications for EFTUD2 were set to 22305528
Phenotypes for EFTUD2 were set to Bilateral Microtia; 610536
Mode of inheritance for EFTUD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
EFTUD2 was added to Bilateral Microtiapanel. Sources: Eligibility statement exclusion criteria
EFTUD2 was added to Bilateral Microtiapanel. Sources: Expert list