Human genes for hyperekplexia 1
Hyperekplexia 1 [DOID:0060696]
A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
Synonyms: hyperekplexia 1, DOID:0060696, HKPX1