LEOPARD syndrome 1

Definition

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 lentiginosis, cardiomyopathic, LEOPARD syndrome 1, LEOPARD syndrome type 1, LPRD1, multiple lentigines syndrome — per MONDO

Also identified as

• DOID 0080548 per MONDO
• OMIM 151100 per MONDO
• UMLS C4551484 per MONDO