oculodentodigital dysplasia

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A developmental disorder (oculodento-osseous dysplasia) caused by mutation in the gap junction α1 protein (connexin-43). There are craniofacial and limb dysmorphisms, spastic paraplegia, and neurodegeneration. There may also be ocular defects, syndactyly type III, and conductive deafness.

Subjects: Medicine and Health.

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