congenital myasthenic syndrome 21

Term ID

DOID:0110672

Synonyms

CMS21
congenital myasthenic syndrome 21, presynaptic

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (2)

References

OMIM:617239

Ontology

Human Disease ( DOID:0110672 )

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

Citations