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

MIM:615120

Ontology

Human Disease ( DOID:0110657 )

Relationships

is a type of: autosomal recessive disease congenital myasthenic syndrome

autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models