congenital myasthenic syndrome 17

Term ID

DOID:0110674

Synonyms

• CMS17

Definition

A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24234652

References

• OMIM:616304

Ontology

Human Disease   ( DOID:0110674 )