Term Name: congenital myasthenic syndrome 4C
Synonyms: CMS Id, CMS1D, CMS4C, congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency, congenital myasthenic syndrome type Id, FIM1
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Ontology: Human Disease [DOID:0110679]   ( DOID:0110679 )

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