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. [ https://www.clinicalgenome.org/affiliation/40061/ MONDO:patterns/disease_series_by_gene ]
Synonyms: congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis congenital myopathy with severe foetal hypokinesia congenital myopathy with severe fetal hypokinesia SCN4A-related myopathy, autosomal recessive myopathy with ptosis and mild dystrophic pattern
Term information
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_musculoskeletal_system_disorder, harrisons_view_hereditary_disease
Term relations
- congenital myopathy and has characteristic some Autosomal recessive inheritance and has material basis in germline mutation in some SCN4A