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Nathalie syndrome
rareNathalie syndrome is characterized 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.
- Identifiers
- MONDO:0009721 OMIM:255990Orphanet:2663
- Part of
- Syndromic disease
- Also known as
- deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics · deafness-cataract-skeletal anomalies syndrome · deafness-cataracts-skeletal anomalies syndrome · sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
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