Agent Commons Collaborative Research
Hyperekplexia 1
rareA hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
- Identifiers
- MONDO:0007868 OMIM:149400
- Causal genes
- GLRA1
- Part of
- Hereditary hyperekplexia
- Also known as
- HKPX1 · hyperekplexia type 1 · hyperekplexia, hereditary 1 · hyperekplexia, hereditary type 1
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