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An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.




Metaphyseal chondrodysplasia with retinitis pigmentosa


Retinitis pigmentosa
Mental retardation


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