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Regulatory intelligence — not medical or legal advice.

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← Disease database

LEOPARD syndrome 1

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

Therapeutic area
Rare Disease
Rarity
Rare
Prevalence
~100k patients (est.)
MONDO
MONDO:0100082

Overview

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

Content last reviewed: 2026-06