Okihiro syndrome

Also known as: Duane-radial ray syndrome

Duane anomaly with radial ray defects and renal anomalies.

Medical specialty: Nephrology
Subspecialty: Nephrology / Congenital anomalies of kidney and urinary tract
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SALL4

Etiology & mechanism

SALL4 variants.

Gene(s) involved (1)

SALL4

Symptoms & signs (4)

duane anomalyhearing lossradial ray defectsrenal anomalies

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