SCN4A-related myopathy, autosomal recessive

SCN4A-related myopathy, autosomal recessive

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

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This is just here as a test because I lose it

Term information

Subsets

gard_rare, otar, rare, clingen

ClinGen label

SCN4A-related myopathy, autosomal recessive [ https://www.clinicalgenome.org/affiliation/40061/ ]

UK spelling synonym

congenital myopathy with severe foetal hypokinesia

MONDO:0100121

seeAlso

https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele

term tracker item

https://github.com/monarch-initiative/mondo/issues/1453

Term relations

Equivalent to:

congenital myopathy and has characteristic some Autosomal recessive inheritance and has material basis in germline mutation in some SCN4A

Subclass of: