You are using an outdated browser. Please upgrade your browser to improve your experience.

LEOPARD syndrome 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Uniprot Description A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0100082:  LEOPARD syndrome 1
DOID:0080548: