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. [ https://www.clinicalgenome.org/affiliation/40061/ MONDO:patterns/disease_series_by_gene ]
Term info
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.
congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis, congenital myopathy with severe fetal hypokinesia, myopathy with ptosis and mild dystrophic pattern, SCN4A-related myopathy, autosomal recessive
MONDO:0100121
https://www.clinicalgenome.org/affiliation/40061/