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Nathalie syndrome

Disease Summary
Associated Targets ()

Mondo Description Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Mondo Term and Equivalent IDs
MONDO:0009721:  Nathalie syndrome
GARD:0003929: 
MESH:C538342: 
Orphanet:2663: 
SCTID:716170005: 
UMLS:C1850626: