LEOPARD syndrome 1

MONDO:0100082

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.

Also known as: LEOPARD syndrome 1, LEOPARD syndrome type 1, LPRD1, lentiginosis, cardiomyopathic, multiple lentigines syndrome

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