Bilateral microtia

Gene: EFTUD2

Green List (high evidence)

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

• PMID:16760738
• 19334086
• 22305528
• 22541558
• 23188108
• 7584026
• 9233818

Phenotypes
610536

Publications

• 22305528

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

MIM 603892

Created: 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

• 22305528,