Bilateral microtia
Gene: DHODH
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#263750:Miller syndrome [Postnatal growth deficiency; Micrognathia; Cup-shaped ears; Conductive hearing loss; Low-set ears; Downslanting palpebral fissure; Eyelid coloboma; Ectropion; Choanal atresia; Cleft lip; Cleft palate; Conical teeth; Pectus excavatum; Rib defects; Accessory nipples; Pyloric stenosis; Midgut malrotation; Micropenis; Cryptorchidism; Renal anomalies; Malar hypoplasia; Supernumerary vertebrae; Congenital hip dislocation; Ulnar hypoplasia; Radial hypoplasia; In-curving forearms; Radioulnar synostosis; Syndactyly; Thumb hypoplasia; Absence of fifth digit; Absence of fifth digit]
Publications
MIM 126064Created: 3 Feb 2016, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Miller syndrome with bilateral microtia; syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Publications for DHODH were set to 19915526
Phenotypes for DHODH were set to Bilateral Microtia; 263750
Mode of inheritance for DHODH was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DHODH was added to Bilateral Microtiapanel. Sources: Expert list