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Hyperekplexia 1 (MONDO:0007868)

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

Overview

Category

Ontology ID

Internal:9204

Synonyms

HKPX1

hyperekplexia 1

hyperekplexia type 1

hyperekplexia, hereditary type 1

Kok disease

Sthe

Stiff-Man syndrome, congenital

Stiff-Person syndrome, congenital

Stiff-baby syndrome

exaggerated startle reaction

hyperekplexia, hereditary 1

startle disease, familial

startle reaction, exaggerated

Mapped terms

DOID:0060696

GARD:0024583

MEDGEN:1647581

OMIM:149400

UMLS:C4551954

Child terms

Unknown children.