Hyperekplexia 2

Definition

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.

Also known as GLRB hereditary hyperekplexia, hereditary hyperekplexia caused by mutation in GLRB, HKPX2, hyperekplexia 2, hyperekplexia type 2 — per MONDO

Also identified as

• DOID 0060697 per MONDO
• OMIM 614619 per MONDO
• UMLS C3553291 per MONDO