Preferred Label : myotonia with skeletal abnormalities and mental retardation;

UMLS semantic type : T047 - Disease or Syndrome;

Details


Main resources

You can consult :


http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3101
false
true
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France
scientific and technical information
myotonia
myotonia with skeletal abnormalities and mental retardation
skeleton
mental retardation
spastic paraplegia 17
Richieri Costa Da Silva syndrome
intellectual disability
neurocirculatory asthenia

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03/05/2025


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