Hyperekplexia 3

Definition

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.

Also known as hereditary hyperekplexia caused by mutation in SLC6A5, HKPX3, hyperekplexia 3, hyperekplexia type 3, SLC6A5 hereditary hyperekplexia — per MONDO

Also identified as

• DOID 0060698 per MONDO
• OMIM 614618 per MONDO
• UMLS C3553288 per MONDO