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hyperekplexia 1 | RareConnect | RareConnect.io

/hereditary hyperekplexia

/hyperekplexia 1

hyperekplexia 1

Rare Disease

MONDO:0007868

Also Known As

HKPX1hyperekplexia 1hyperekplexia type 1hyperekplexia, hereditary type 1Kok diseaseStheStiff-Man syndrome, congenitalStiff-Person syndrome, congenitalStiff-baby syndromeexaggerated startle reactionhyperekplexia, hereditary 1startle disease, familialstartle reaction, exaggerated

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:149400 ↗

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