Bilateral microtia

Gene: OTX2

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#610125:Retinal dystrophy, early-onset, with or without pituitary dysfunction [Short stature (in some patients); Microphthalmia, unilateral or bilateral; Anophthalmia, clinical, unilateral or bilateral; Coloboma; Microcornea; Cataract; Retinal dystrophy; Optic nerve hypoplasia or agenesis; Cleft palate (in some patients); Small penis (in some patients); Cryptorchidism (in some patients); Joint laxity; Developmental delay; Hypotonia; Seizures; Corpus callosum, agenesis of (in some patients); Pituitary hypoplasia (in some patients); Ectopic posterior pituitary (in some patients); Pituitary hypoplasia (in some patients); Pituitary hormone deficiencies (in some patients)]; #613986:Pituitary hormone deficiency, combined, 6 [Short stature; Pituitary hypoplasia; Ectopic posterior pituitary; Pituitary hormone deficiencies]

Publications

• PMID:10490024
• 10490025
• 10935548
• 12663655
• 1353865
• 14625556
• 15557469
• 15846561
• 16256739
• 16712695
• 18385377
• 18628516
• 18728160
• 18781617
• 18854396
• 19956411
• 19965921
• 20396904
• 22577225
• 24167467
• 25293953
• 7901323
• 7959790
• 8826432
• 9174161

Red List (low evidence)

Phenotypes
CAUSES OTOCEPHALY DYSGNATHIA SYNDROME