Duane-radial ray syndrome

Also known as: Okihiro syndrome

Duane retraction with radial ray defects.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: SALL4

Etiology & mechanism

SALL4 haploinsufficiency.

Gene(s) involved (1)

SALL4

Symptoms & signs (5)

duane retractionhearing lossradial ray defectsrenal anomaliesthumb hypoplasia

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