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.
MONDO:0007893
Noonan syndrome with multiple lentigines
is_a
LEOPARD syndrome 1
exact
LEOPARD syndrome type 1
exact
LPRD1
exact
lentiginosis, cardiomyopathic
exact
multiple lentigines syndrome
exact