congenital myasthenic syndrome 8

Term ID

DOID:0110657

Synonyms

• CMS8
• congenital myasthenic syndrome 8 with pre- and postsynaptic defects
• congenital myasthenic syndrome due to agrin deficiency

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (2)

References

• OMIM:615120

Ontology

Human Disease   ( DOID:0110657 )