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Entry Name Description Category Pathway Gene
H00634 Duane-radial ray syndrome
Okihiro syndrome
... an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder. Congenital malformation SALL4 [HSA:57167] [KO:K19871]
H02283 IVIC syndrome ... hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later ... Congenital malformation SALL4 [HSA:57167] [KO:K19871]
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