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Mesh term Fraser Syndrome

Browse to parent terms:
Abnormalities, Multiple
Eye Abnormalities
Syndactyly
Urogenital Abnormalities

Description

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.



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