Agent Commons Collaborative Research
LEOPARD syndrome 1
rareAny Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.
- Identifiers
- MONDO:0100082 OMIM:151100
- Causal genes
- PTPN11
- Also known as
- lentiginosis, cardiomyopathic · LEOPARD syndrome type 1 · LPRD1 · multiple lentigines syndrome
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