Hyperekplexia 1

Definition

A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

Also known as HKPX1, hyperekplexia 1, hyperekplexia type 1, hyperekplexia, hereditary type 1 — per MONDO

Also identified as

• DOID 0060696 per MONDO
• OMIM 149400 per MONDO
• UMLS C4551954 per MONDO