Term Name: hyperekplexia 2
Synonyms: HKPX2
Definition: A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
Ontology: Human Disease [DOID:0060697]   ( DOID:0060697 )

Relationships
is a type of: autosomal recessive disease hyperekplexia