hyperekplexia 1
A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
MONDO:0021022
hereditary hyperekplexia
is_a
HKPX1
exact
hyperekplexia 1
exact
hyperekplexia type 1
exact
hyperekplexia, hereditary 1
related
hyperekplexia, hereditary type 1
exact