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congenital myasthenic syndrome 16

Synonym

Definition

A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

Super Class

autosomal recessive disease congenital myasthenic syndrome

Disease Ontology

DOID:0110682

Mondo Disease Ontology

OMIM

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
6329	SCN4A	sodium voltage-gated channel alpha subunit 4	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
110880	Scn4a	sodium channel, voltage-gated, type IV, alpha	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
25722	Scn4a	sodium voltage-gated channel alpha subunit 4	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
32619	para	paralytic	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
564977	scn4ab	sodium channel, voltage-gated, type IV, alpha, b	Alliance of Genome Resources
572442	scn4aa	sodium channel, voltage-gated, type IV, alpha, a	Alliance of Genome Resources

Displaying entries **1 - 10** of 32 in total

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HPO ID	HPO Term
HP:0001324	Muscle weakness
HP:0002878	Respiratory failure
HP:0000597	Ophthalmoparesis
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0002329	Drowsiness
HP:0000496	Abnormality of eye movement
HP:0003388	Easy fatigability
HP:0002091	Restrictive ventilatory defect
HP:0003458	EMG: myopathic abnormalities
HP:0000961	Cyanosis