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Hyperekplexia 1
MONDO:0007868A 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, Kok disease, Sthe, Stiff-Man syndrome, congenital, Stiff-Person syndrome, congenital
12 clinical trials for this condition and its sub-types, 0 tagged with Hyperekplexia 1 itself.
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