Term Name: hyperekplexia 3
Synonyms: HKPX3
Definition: A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
Ontology: Human Disease [DOID:0060698]   ( DOID:0060698 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease hyperekplexia