Bilateral microtia

Gene: DHODH

Red List (low evidence)

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

• PMID:1446837
• 19915526
• 20220176
• 21430780
• 8211381

Green List (high evidence)

MIM 126064

Created: 3 Feb 2016, 4:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Miller syndrome with bilateral microtia; syndromic features

Publications

• 19915526