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