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SCN4A-related myopathy, autosomal recessive

Go to external page http://purl.obolibrary.org/obo/MONDO_0100121

Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. [ MONDO:patterns/disease_series_by_gene https://www.clinicalgenome.org/affiliation/40061/ ]

Synonyms: congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis congenital myopathy with severe foetal hypokinesia congenital myopathy with severe fetal hypokinesia myopathy with ptosis and mild dystrophic pattern SCN4A-related myopathy, autosomal recessive

This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare, clingen

id

MONDO:0100121

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100121

https://www.clinicalgenome.org/affiliation/40061/

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