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Standards Ontologies Notations
congenital myopathy 22B

Summary
Definition
A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
Super Class
autosomal recessive disease congenital myopathy
Disease Ontology
DOID:0081355
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6329 SCN4A sodium voltage-gated channel alpha subunit 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
110880 Scn4a sodium channel, voltage-gated, type IV, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
25722 Scn4a sodium voltage-gated channel alpha subunit 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic
Displaying all 2 entries
Gene ID Gene Symbol Description Source
564977 scn4ab sodium channel, voltage-gated, type IV, alpha, b
572442 scn4aa sodium channel, voltage-gated, type IV, alpha, a
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024