Term Name: congenital myasthenic syndrome 21
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.
Ontology: Human Disease [DOID:0110672]   ( DOID:0110672 )

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