Visualize Submit Comment
Metadata
ID DOID:0110674
Name congenital myasthenic syndrome 17
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
Xrefs

OMIM:616304

Synonyms

CMS17 [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

Add an item to the term tracker