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Up to: Neurofibromatosis type 1 · Partial deletion of the long arm of chromosome 17

Chromosome 17q11.2 deletion syndrome, 1.4Mb

A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

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This condition has no sub-types.