Term Name: congenital myasthenic syndrome 17
Synonyms: CMS17
Definition: A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
Ontology: Human Disease [DOID:0110674]   ( DOID:0110674 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome