Bilateral microtia
Gene: FREM2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#219000:Fraser syndrome [Unusual hairline with hair growth on temples extending to lateral eyebrow; Middle ear malformations; External ear malformations; Conductive hearing loss; Cryptophthalmos; Absent or malformed lacrimal ducts; Hypertelorism; Blindness; Hypoplastic, notched nares; Broad, low nasal bridge; Midline nasal cleavage; Cleft lip; Cleft palate; Teeth crowding; Laryngeal stenosis; Laryngeal atresia; Widely spaced nipples; Umbilical anomaly; Small penis; Clitoral enlargement; Hypospadias; Cryptorchidism; Vaginal atresia; Bicornuate uterus; Renal agenesis/hypoplasia; Diastasis of symphysis pubis; Syndactyly; Unusual hairline; Mental retardation; Microcephaly; Meningomyelocele; Encephalocele]
Publications
MIM 219000Created: 3 Feb 2016, 5:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Fraser syndrome with microtia; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for FREM2 were set to Bilateral Microtia; 248450
Publications for FREM2 were set to 15838507
Mode of inheritance for FREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FREM2 was added to Bilateral Microtiapanel. Sources: Expert list