Other terms
LEOPARD Syndromes,Syndrome, LEOPARD,Syndromes, LEOPARD,Multiple Lentigines Syndrome,Lentigines Syndrome, Multiple,Lentigines Syndromes, Multiple,Multiple Lentigines Syndromes,Syndrome, Multiple Lentigines,Syndromes, Multiple Lentigines
Description
LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
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