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- ... called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, ...
- ... severe visual impairment beginning at birth or shortly afterward. Variants in the CRB1 gene account for 9 ...
- ... severe visual impairment beginning at birth or shortly afterward. Variants in the RPE65 gene account for 6 ...
- ... of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 ...
- ... severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and ...
- ... severe visual impairment beginning at birth or shortly afterward. Variants in this gene account for 6 to ...
- ... severe visual impairment beginning near birth or shortly afterward. Variants in the CEP290 gene account for 15 ...